Supplemental tables 1
Abdominal tenderness
Abnormal amino acid metabolism
Abnormal breathing movement
Abnormal EEG
Abnormal eye movements
Abnormal fairs
Abnormal genitalia
Abnormal glucose tolerance
Abnormal levels of fat in your blood
Abnormal manner of walking (gait)
Abnormal muscle tone
Abnormal or delayed sensory motor performance
Abnormal preoccupation for food (color, texture)
Abnormal reflex
Abnormal sleep pattern
Abnormal Speech development
Abnormal tooth color
Abnormalities of the eyes
Abnormalities of the photopic ERG
Absence of corpus callosum
Absence of frontal sinuses
Absence of septum pellucidum
Absent Finger and Toenails
Absent speech
Achromatopsia
Acrochordons
Acrocyanosis
Adenocarcinoma of the ileum
Agenesis of corpus callosum
Agenesis of the gallbladder
Aggressive behavior
Aggressiveness
Agyria (absence of gyri)
Albino pupillary reflex
Almond-shaped eyes
Aloof manner
Ambiguous genitalia
Ambiguous genitalia
Ambiguous genitalia
Angina
Angle-Closure glaucoma
Anophthalmia
Anosmia
Anterior lenticonus
Anteverted nares
Antisocial Behavior
Aortic Arch Abnormalities
Aortic regurgitation
Aphtus ulcers
Appetite loss
Arachnodactyly
Arborescent papillomas
Areflexia
Arthralgias
Arthropathy
Articulation defects
Aspiration
Asplenia
Ataxic gait
Abdominal Injuries
Amino Acid Metabolism, Inborn Errors
Respiration Disorders
Nervous System Malformations
Eye Abnormalities
Fear
Sex Differentiation Disorders
Glucose Metabolism Disorders
Arteriosclerosis
Gait Disorders, Neurologic
Muscle Hypertonia
Psychomotor disorders
Stereotyped Behavior
Reflex, Abnormal
Behavioral Symptoms
Speech disorders
Tooth Discoloration
Eye Abnormalities
Vision, Low
Brain Diseases
Frontal sinus
Brain Diseases
Nail Diseases
Mutism
Color Vision Defects
Skin Diseases
Skin Diseases
Adenocarcinoma
Brain Diseases
Gallbladder Diseases
Aggression
Aggression
Nervous System Malformations
Pupil Disorders
Eye abnormalities
Social Isolation
Genital Diseases, Male
Genital Diseases, Female
Sex Differentiation Disorders
Angina pectoris
Glaucoma, Angle-Closure
Anophthalmos
Olfaction Disorders
Lens Diseases
Craniofacial Abnormalities
Attention deficit and disruptive behavior disorders
Aortic Arch Syndromes
Aortic Valve Insufficiency
Stomatitis, Aphthous
Eating Disorders
Marfan Syndrome
Papilloma
Reflex, Abnormal
Arthralgia
Arthropathy, Neurogenic
Articulation Disorders
Pneumonia, Aspiration
Splenic Diseases
Gait Ataxia

Atheroeruptive xanthoma
Atrial septal defect
Atrophic gastritis
Atrophic glossitis
Atrophic scars
Atrophy of shins (muscle)
Attends more to parts of objects
Attention deficit hyperactivity disorder (ADHD)
Auditory impairment
Autism
Azoospermia
Barrel-shaped rib cage
Basal cell carcinoma
Bedridden
Behavior changes
Behavior problems (food related)
Behavioral abnormalities
Behavioral disturbances
Behavioral problems
Behavioral/Psychiatric manifestations
Benign tumors of hair follicle
Bifid tongue
Bifid ureter
Bifid Uvula
Bile duct proliferation
Biliary cirrhosis
Biliary dysgenesis
Bimanual synkinesia
Bladder complications
Bleeding
Bleeding abnormalities
Bleeding after giving birth
Bleeding after surgery
Bleeding after trauma
Bloated eyelids
Bloating
Blood in the stool
Blood vessel abnormalities
Blue sclera
Blue sclerae
Bluish discoloration skin and mucous membrane
Blurred vision
Body twisting/bending
Bone destruction
Bone dysplasia
Bone fracture
Bone pain
Bone remodeling disorder
Bone-related arthritis
Bony paranasal bossing
Bowed legs
Bowel complications
Brachycephaly
Brachydactyly
Bradykinesia
Brain abnormalities
Brain and neurochemical abnormalities
Brain diseases
Brain stem compression
Breathing difficulty, lying down
Breathing disturbances
Breech presentation during delivery
Brittle hair
Broad alveolar ridges
Broad chest
Broad nasal bridge
Bronchospastic symptoms
Supplemental tables 2
Xanthomatosis
Heart Septal Defects, Ventricular
Gastritis, Atrophic
Glossitis
Cicatrix
Muscular Atrophy
Obsessive Behavior
Attention Deficit Disorder with Hyperactivity
Auditory Perceptual Disorders
Autistic Disorder
Oligospermia
Musculoskeletal Abnormalities
Carcinoma, Basal Cell
Asthenia
Behavioral Symptoms
Behavioral Symptoms
Behavioral Symptoms
Behavioral Symptoms
Behavioral Symptoms
Behavioral Symptoms
Hamartoma
Tongue, Fissured
Ureteral Diseases
Cleft palate
Bile Duct Neoplasms
Liver Cirrhosis, Biliary
Bile duct diseases
Movement Disorders
Bladder diseases
Hemorrhage
Hemorrhage
Postpartum hemorrhage
Postoperative hemorrhage
Hemorrhage
Eyelid Diseases
Signs and Symptoms, Digestive
Melena
Cardiovascular Abnormalities
Scleral Diseases
Scleral Diseases
Purpura
Vision Disorders
Stereotypic Movement Disorder
Osteonecrosis
Bone Diseases, Developmental
Fractures
Pain
Bone Diseases, Developmental
Osteoarthritis
Neoplasms, Bone Tissue
Lower Extremity Deformities, Congenital
Gastrointestinal diseases
Craniofacial Abnormalities
Limb Deformities, Congenital
Hypokinesia
Neurologic Manifestations
Neurologic Manifestations
Neurologic Manifestations
Brain Damage, Chronic
Respiratory Insufficiency
Respiratory Insufficiency
Breech presentation
Hair
Jaw Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Bronchial Spasm

Supplemental tables 3
Bruising easily (discoloration of skin surface)
Brushfield spots
Bulbar dysfunction
Skin abnormalities
Hyperpigmentation
Craniomandibular Disorders
Bulbar palsies
Burning
Bulbar Palsy, progressive
Pain
Calcium oxalate urolithiasis Urinary Calculi
Calcium Pyrophosphate Dihydrate (CPPD) crystal deposition Chondrocalcinosis
Camptodactyly
Cancer
Capillary proliferation
Cardiac abnormalities
Cardiac conduction defects
Cardiac ischemia
Cardiomyopathy
Hand Deformities, Congenital
Neoplasms
Vascular Diseases
Heart Diseases
Heart Diseases
Myocardial Ischemia
Cardiomyopathies
Carnosinase deficiency
Carnosinemia
Carnosinuria
Catatonic behavior
Caudal regression syndrome
Central scotomata
Cepocephaly
Cerebellous ataxia
Cerebral atrophy
Cerebral atrophy/myelin abnormality
Cerebral cortex abnormalities
Cerebral white matter disorders
Change in bowel habits
Changes in thinking during childhood
Chest abnormalities
Chest deformities
Chest pressure
Childhood polyphagia
Chordee
Choreoathetosis
Choroidal sclerosis
Chronic active gastritis
Chronic bronchopulmonary infection
Chronic diarrhea
Chronic distal motor polyneuropathy
Chronic myelogenous leukemia
Chronic nephritis
Chronic otitis media
Chronic persistent gastritis
Chronic persistent rhinorrhea
Chronic productive cough
Chronic progressive ophthalmoplegia
Chronic rhinitis
Chronic sinusitis
Ciliary dyskinesia
Circulation problems
Claw hand
Claw hand deformities
Clawfoot
Dipeptidases
Amino Acid Transport Disorders, Inborn
Aminoaciduria, Renal
Schizophrenia, Catatonic
Bone Diseases, Developmental
Scotoma
Craniofacial Abnormalities
Cerebellar ataxia
Atrophy
Atrophy
Nervous System Malformations
Cerebrovascular Disorders
Signs and Symptoms, Digestive
Mental Disorders Diagnosed in Childhood
Musculoskeletal Abnormalities
Musculoskeletal Abnormalities
Chest pain
Hyperphagia
Penile Diseases
Athetosis
Choroideremia
Gastritis
Aspergillosis, Allergic Bronchopulmonary
Diarrhea
Refsum Disease
Leukemia, Myeloid, Chronic
Nephritis
Otitis Media
Gastritis
Cerebrospinal Fluid Rhinorrhea
Cough
Ophthalmoplegia
Rhinitis
Frontal sinusitis
Ciliary Motility Disorders
Cardiovascular Abnormalities
Hand Deformities, Congenital
Hand Deformities, Congenital
Foot Deformities, Congenital
Clay-colored or white stools
Clefts of lip
Clefts of palate
Clefts of uvula
Clinodactyly
Clubbing of fingers
Clumsiness
Clumsy gait
Coarctation of aorta
Coarse facies
Cochlear malformation
Cognitive abnormalities
Color blindness
Color vision deficiency
Feces
Cleft lip
Cleft palate
Uvula
Limb Deformities, Congenital
Osteoarthropathy, Secondary Hypertrophic
Motor Skills Disorders
Gait Disorders, Neurologic
Aortic Coarctation
Facies
Cochlear Diseases
Neurobehavioral Manifestations
Color Vision Defects
Color vision defects

Colpocephaly
Communication hydrocephalus
Communication problems
Compensated hypothyroidism
Compulsiveness/Rituals of behavior
Conductive deafness
Cone-rod retinal dystrophy
Cone-shaped epiphyses
Congenital bilateral hip dislocation
Congenital bleeding diathesis
Congenital heart defects
Congenital heart disease
Congenital hip dislocation
Congenital ichthyosis
Congenital myopathy
Congenital neurosensory deafness
Congenital torticollis
Congestive heart failure
Conotruncal malformations
Contractures (tightness)
Convulsions
Coprolalia
Cor pulmonale
Corneal abnormalities
Corneal clouding
Corneal degeneration
Corneal flatness
Corneal opacities
Coronary Artery Disease
Coronary heart disease
Corpus callosum hypoplasia
Coughing
Coxa valga
Coxa vara
Cramping
Cranial Asymmetry
Cranial hyperostosis
Cranial nerve palsies
Craniofacial asymmetry
Craniometaphyseal dysplasia
Cubitus valgus
Cutis marmorata
Cyclopia (eyes fused into one)
Cystic kidneys
Cystic maculopathy
Cystic retinal degeneration
Cytochrome b5 deficiency
Dark adherent skin scales
Dark urine
Darkening of skin color (bronzing)
Deafness, sensorineural
Decreased appetite
Decreased deep tendon reflexes
Decreased fetal movement
Decreased infertility in females
Decreased nonverbal IQ
Decreased perspiration
Decreased pigmentation of choroid and iris
Decreased vibratory sense in lower limbs
Decreased visual acuity
Decreased vomiting
Defective blue and yellow vision
Deficient muscle mitochondrial complex II
Deformed nose
Deformity of distal femur
Deformity/Enlargement of bones
Degeneration lateral corticospinal tracts
Supplemental tables 4
Brain Diseases
Hydrocephalus
Behavioral symptoms
Hypothyroidism
Ceremonial Behavior
Hearing loss, Conductive
Retinitis Pigmentosa
Bone Diseases
Hip dislocation, Congenital
Hemorrhage
Heart defects, congenital
Heart defects, Congenital
Hip dislocation
Ichthyosis
Myopathies, Structural, Congenital
Hearing loss, sensorineural
Torticollis
Heart Failure, Congestive
Ventricular Outflow Obstruction
Contracture
Seizures
Speech Disorders
Pulmonary Heart Disease
Corneal Diseases
Cataract
Corneal Diseases
Corneal Diseases
Corneal Opacity
Coronary Arteriosclerosis
Coronary Disease
Brain Diseases
Cough
Joint diseases
Joint diseases
Abdomen, acute
Craniofacial Abnormalities
Hyperostosis
Cranial Nerve Diseases
Craniofacial Abnormalities
Osteochondrodysplasias
Upper Extremity Deformities, Congenital
Urticaria
Anophthalmos
Kidney, Cystic
Macular Degeneration
Kidney, Cystic
Cytochromes b5
Skin abnormalities
Urologic diseases
Skin abnormalities
Hearing loss, sensorineural
Eating Disorders
Reflex, Abnormal
Fetal Diseases
Infertility, female
Communication Disorders
Hypohidrosis
Eye abnormalities
Hypesthesia
Vision disorders
Signs and Symptoms, Digestive
Color Vision Defects
Electron Transport Complex II
Nose Deformities, acquired
Lower Extremity Deformities, Congenital
Hyperostosis
Spinocerebellar Degenerations

Degeneration of white matter tracts
Delayed cognitive development
Delayed early milestones in motor skills
Delayed gross motor development
Delayed growth
Delayed motor development
Delayed motor milestones
Delayed motor skill development
Delayed walking
Demyelination
Demyelination of motor nerves
Dental abnormalities
Dental disease
Dependent acrocyanosis
Depigmented fundus
Depressed nasal bridge
Developmental delay
Developmental delay in general
Diabetes
Diabetes type II
Diaphragmatic hernia
Diastasis recti
Diastematomyelia
Difficulty in expressing needs
Difficulty seeing dim lighting
Difficulty with abstract language
Difficulty with memory
Diffuse increased pigmentation of skin
Diminished auditory attention
Diminished deep tendon reflexes
Diminished fear for separation
Diminished interest in other children
Diplegia
Disruptive Behavior
Distal intestinal obstruction syndrome
Distal muscle atrophy
Distal muscle weakness
Distal phalangeal hypoplasia
Distal sensory impairment
Distal sensory impairment
Distension
Distinctive facial features
Distractibility
Disturbances in playing behavior
Disturbed sleep
Dizziness
Dolichocephaly
Dolichostenomelia
Dolicocephaly
Double jointed in hands and feet
Double outlet right ventricle
Down-slanting palpebral fissures
Drowsiness
Duodenal ulcers
Dyschromatopsia
Dysmorphic skull and facial bones
Dysotosis multiplex
Dysphagia
Ear anomalies
Early conductive hearing loss
Early dentition loss
Early glaucoma
Early morning awakening
Early ossification of capital femoral epiphyses
Easily abraded enamel
Easy bruisability
Easy bruising
Supplemental tables 5
Nerve degeneration
Neurobehavioral manifestations
Developmental Disabilities
Psychomotor Disorders
Developmental Disabilities
Psychomotor Disorders
Developmental Disabilities
Psychomotor disorders
Developmental Disabilities
Demyelinating Diseases
Demyelinating Diseases
Tooth diseases
Tooth Diseases
Cyanosis
Eye Abnormalities
Craniofacial Abnormalities
Developmental Disabilities
Developmental Disabilities
Diabetes Mellitus
Diabetes Mellitus, Type 2
Hernia, Diaphragmatic
Musculoskeletal Abnormalities
Neural Tube Defects
Communication Disorders
Vision Disorders
Language Disorders
Learning Disorders
Skin abnormalities
Auditory Perception
Reflex, Abnormal
Reactive Attachment Disorder
Social Behavior Disorders
Cerebral Palsy
Attention deficit and disruptive behavior disorders
Intestinal Obstruction
Muscular Atrophy
Muscle Weakness
Limb Deformities, Congenital
Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies
Signs and Symptoms, Digestive
Facies
Attention deficit disorder with hyperactivity
Child Development Disorders, Pervasive
Behavioral Symptoms
Dizziness
Craniofacial Abnormalities
Marfan Syndrome
Craniofacial Abnormalities
Joint diseases
Ventricular Dysfunction, Right
Eyelid Diseases
Sleep stages
Duodenal Ulcer
Color vision defects
Craniofacial Abnormalities
Dysostoses
Deglutition Disorders
Ear Deformities, Acquired
Hearing Loss, Conductive
Tooth Loss
Glaucoma
Sleep Initiation and Maintenance Disorders
Ossification, Heterotopic
Dental Enamel Hypoplasia
Skin abnormalities
Skin abnormalities

Ectopic testes
EEG abnormalities
Elliptocytosis
Emotional disturbances
Emotional instability
Emotional lability
Emotional outbursts
Emotional problems
Enamel abnormalities
Enamel hypoplasia
Encephalopathy
End-stage Renal Disease (ESRD)
Enlarged liver
Enlarged lymph nodes
Enlarged vestibular aqueducts
Enlargement of thyroid gland
Epicanthal folds
Epiphyseal stippling
Episodic dystonic hand movements
Erectile dysfunction
Erythematous malar rash
Ethmocephaly
Eunuchoid habitus
Euthyroid
Excess of amniotic fluid during pregnancy
Excessive freckling
Excessive need for sucking
Excretion of saccharopine in urine
Expressive language delay
Extensible joints
Extensor plantar responses
Extreme flexible joints
Exuberant social fair and avoidance
Eye blinks
Eye fatigue
Eye movement disorder
Eye problems
Facial capillary hemangioma
Facial cleft
Facial deformities
Facial dysmorphism
Facial palsy
Facial tics
Factor VIII deficiency
Failure to orient to own name by 12 months
Fainting
Fair skin
Farsightedness
Fast heart rate
F-cell production
Feeding difficulties
Feeding problems
Feeling tired
Female decreased fertility
Fibrofolliculomas
Finger abnormalities
Finger and toe clubbing
Flat Facial Expression
Flat Facial Expression
Flat facies
Flat feet
Flat jejunal mucosa
Flat midface
Flat philtrum
Flesh to pink-red nodules
Flushed skin
Follicular non-Hodgkin lymphoma
Supplemental tables 6
Testicular Diseases
Nervous System Malformations
Elliptocytosis, Hereditary
Affective Symptoms
Affective Symptoms
Affective Symptoms
Affective Symptoms
Affective Symptoms
Amelogenesis Imperfecta
Dental Enamel Hypoplasia
Brain Damage, Chronic
Kidney Failure, chronic
Hepatomegaly
Giant Lymph Node Hyperplasia
Vestibular Diseases
Thyroid Neoplasms
Eyelid Diseases
Chondrodysplasia Punctata
Dystonic Disorders
Impotence
Lupus Erythematosus, Cutaneous
Craniofacial Abnormalities
Eunuchism
Euthyroid Sick Syndromes
Polyhydramnios
Melanosis
Sensation Disorders
Hyperlysinemias
Language Development Disorders
Joint instability
Reflex, Babinski
Joint instability
Phobic Disorders
Stereotypic Movement Disorder
Asthenopia
Ocular Motility Disorders
Eye Manifestations
Hemangioma, Capillary
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Maxillofacial Abnormalities
Facial Paralysis
Tics
Hemophilia A
Agnosia
Syncope
Hypopigmentation
Hyperopia
Tachycardia
Vascular Diseases
Feeding and Eating Disorders of Childhood
Feeding and Eating Disorders of Childhood
Mental fatigue
Infertility, Female
Skin Diseases
Hand Deformities, Congenital
Osteoarthropathy, Secondary Hypertrophic
Muscle Hypotonia
Communication Disorders
Maxillofacial Abnormalities
Flatfoot
Jejunal Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Skin Abnormalities
Skin abnormalities
Lymphoma, Follicular

Foot drop
Foot infections
Foot stamping
Foot ulcerations
Forearm fullness
Freckles in sun-exposed areas
Frequent gas pains
Frontal bossing
Frontal lobe hypoplasia
Full cheeks
Fullness
Fullness in the left upper abdomen
Functional blindness
Gait disturbances
Gallbladder disease
Gallbladder dysfunction
Gallbladder problems
Gamma-glutamyltranspeptidase deficiency
Gastric ulcers
Gastrointestinal abnormalities
Gastrointestinal bleeding
Gastrointestinal disorders
Gastrointestinal problems
General anxiety
Generalized depression of sensitivity
Generalized itching
Generalized obesity
Generalized pruritis
Genitourinary defects
Giant platelets
Gingival bleeding
Glutathionemia
Glutathionuria
Glycolicaciduria
Gradual loss of peripheral vision
Granulomatous colitis
Gray matter heterotopias
Growth delay
Growth retardation
Hair loss
Hammer toes
Hand flapping
Handlebar clavicles
Head jerking
Head nodding
Hearing impairment
Hearing problems
Heart abnormalities
Heart and blood vessel problems
Heart attack
Heart disease
Heavy sweating
Helicobacter pylory infection susceptibility
Hemeralopia (loss of vision in the dark)
Hemihypertrophy
Hemodynamic instability
Hemolytic anemia
Hepatic fibrosis
Hepatocellular carcinoma
Hepatocellular disease
Hereditary nonpolyposis colorectal carcinoma
Hiatal Hernia
Hiatus hernia
High blood pressure
High levels of blood proline
High levels of glutathione in plasma and urine
High levels of iron and copper in blood
Supplemental tables 7
Gait Disorders, Neurologic
Foot diseases
Stereotyped Behavior
Foot ulcer
Upper Extremity Deformities, Congenital
Melanosis
Flatulence
Craniofacial Abnormalities
Brain Diseases
Zygoma
Abdominal pain
Abdominal pain
Blindness
Gait Disorders, Neurologic
Gallbladder Diseases
Gallbladder Diseases
Gallbladder Diseases
Gamma-Glutamyltransferase
Stomach Ulcer
Signs and Symptoms, Digestive
Gastrointestinal hemorrhage
Signs and Symptoms, Digestive
Signs and Symptoms, Digestive
Anxiety
Vision Disorders
Pruritus
Obesity
Pruritus
Urogenital Abnormalities
Blood Platelet Disorders
Gingival hemorrhage
Glutathione Synthase
Gamma-Glutamyltransferase
Urologic Diseases
Vision Disorders
Crohn Disease
Brain Diseases
Growth Disorders
Growth Disorders
Alopecia
Hammer Toe Syndrome
Stereotypic Movement Disorder
Musculoskeletal Abnormalities
Stereotypic Movement Disorder
Stereotypic Movement Disorder
Hearing loss
Hearing Disorders
Heart Defects, Congenital
Cardiovascular Abnormalities
Myocardial Infarction
Heart Diseases
Hyperhidrosis
Helicobacter Infections
Vision disorders
Hypertrophy
Vascular Diseases
Anemia, Hemolytic
Liver Diseases
Carcinoma, Hepatocellular
Liver Diseases
Colorectal Neoplasms, Hereditary Nonpolyposis
Hernia, Hiatal
Hernia, Hiatal
Hypertension
Proline oxidase
Gamma-Glutamyltransferase
Zellweger Syndrome

High pain threshold
High tolerance to pain
High-arched palate
Highly arched palate
Highly sensitive to sensory input
High-pitched cat-like cry
Hip subluxation
Hoarse voice
Hyperactive behavior
Hyperactivity
Hyperbilirubinemia
Hypercalcemia
Hypercalciuria
Hyperconvex fingernails
Hyperextensible skin
Hyperinsulinemia
Hyperkeratosis
Hypermetropia
Hypernasal speech
Hypernephroma
Hyperphosphatemia
Hyperreflexia
Hypersalivation
Hypersensitive to sounds or touch
Hypersensitivity to sunlight
Hyperthermia
Hypertonia
Hypertonicity
Hypertrophic clitoris
Hypertrophic ichthyosis
Hypertrypsinemia
Hypocholesterolemia
Hypodontia
Hypogonadotropic hypogonadism
Hypohidrotic skin
Hypoketotic hypoglycemia
Hypomagnesemia
Hypomethioninemia
Hypoplastic clitoris
Hypoplastic digits
Hypoplastic iliac wings
Hypoplastic labia minora
Hypoplastic lungs
Hypoplastic uterus
Hyporeflexia
Hypotelorism
Hypothalamic dysfunction
Hypothalamic hamartoma
Hypotonia
Hypoxia
Hypsarrhythmia
Immature speech rhythms
Immotile cilia
Immune Deficiency
Immunoglobulin dysfunction/reduction
Impaired ability to comfort
Impaired ability to form peer relationships
Impaired ability to look for comfort or help
Impaired curiosity
Impaired expression of language
Impaired imitation
Impaired initiation of activities
Impaired Interest for others using language
Impaired interests and great intensity of perception
Impaired language comprehension
Impaired language development
Impaired motor coordination
Supplemental tables 8
Pain Insensitivity, Congenital
Pain Insensitivity, Congenital
Palate
Palate
Sensation Disorders
Crying
Hip Injuries
Hoarseness
Psychomotor agitation
Psychomotor agitation
Hyperbilirubinemia
Hypercalcemia
Calcium Metabolism Disorders
Nails, Malformed
Ehlers-Danlos Syndrome
Hyperinsulinism
Hyperkeratosis, Epidermolytic
Hyperopia
Nasal Obstruction
Carcinoma, Renal Cell
Phosphorus Metabolism Disorders
Reflex, Abnormal
Sialorrhea
Hyperacusis
Photosensitivity Disorders
Fever
Muscle Hypertonia
Muscle Hypertonia
Vaginal Diseases
Ichthyosis, X-linked
Trypsin
Metabolic Diseases
Anodontia
Hypogonadism
Ectodermal dysplasia
Hypoglycemia
Magnesium Deficiency
Amino Acid Metabolism, Inborn Errors
Genital Diseases, Female
Limb Deformities, Congenital
Musculoskeletal Abnormalities
Genital Diseases, Female
Lung Diseases
Uterine Diseases
Reflex, Abnormal
Craniofacial Abnormalities
Hypothalamic Diseases
Epilepsy, Temporal Lobe
Muscle Hypotonia
Anoxia
Spasms, Infantile
Speech Disorders
Ciliary Motility Disorders
Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
Reactive Attachment Disorder
Child Behavior Disorders
Reactive Attachment Disorder
Developmental Disabilities
Language Development Disorders
Imitative Behavior
Developmental Disabilities
Social Behavior Disorders
Obsessive Behavior
Language Disorders
Language Development Disorders
Motor Skills Disorders

Supplemental tables 9
Impaired neurological function
Impaired processing of language
Impaired reciprocal conversations
Impaired regard
Impaired sexual development
Impaired social response
Impaired social smile
Impaired swallowing
Impaired transport of phosphate
Impaired vision
Impairment in reciprocal social interactions
Impairment in verbal and nonverbal communication
Impairment of cognitive function
Imperforate anus
Impulsivity
Inability to digest certain foods
Inability to move
Inability to relate to other people
Inappropriate attachments to objects
Inappropriate laughing or giggling
Inappropriate questions or remarks
Inappropriate word usage
Inattentiveness
Incomprehensible speech
Incoordination
Increased deep tendon reflexes
Increased production of urine
Increased risk of thyroid carcinoma
Increased serum serotonin
Increased tolerance to pain
Infantile neurodegenerative disease
Infantile seizures
Infantile spasms
Infections
Infertility
Inflammation of the eye
Inflexible adherence to routines or rituals
Inguinal hernia
Inner canthi abnormalities
Insistence on sameness; resistance to change
Instinctive sweet odor of the urine and sweat
Instrumental use of other people's body for communication
Insufficient chewing behavior
Intermittent cerebellar ataxia
Intestinal Malrotation
Intradural/Extradural lipoma
Intrahepatic biliary dysgenesis
Intrahepatic cholestasis of pregnancy
Intraretinal splitting
Involuntary jerking muscle movements
Iris albinism
Iris blue-gray to light brown
Iris coloboma
Iris hypoplasia
Iris Transillumination
Iris translucency
Irregular epiphyses
Irregular metaphyses
Irregularly spaced teeth
Irritability
Irritability and impaired social interaction
Itchiness
Itching
Itching skin
Jerky, marionette-type movements
Joint attention
Joint contractures
Neurologic Manifestations
Language Development Disorders
Communication Disorders
Child Development Disorders, Pervasive
Sexual Development
Social Isolation
Child Behavior Disorders
Deglutition Disorders
Hypophosphatasia
Vision, Low
Social Behavior Disorders
Communication Disorders
Neurobehavioral Manifestations
Anus, Imperforate
Impulsive behavior
Gastrointestinal diseases
Quadriplegia
Child Behavior Disorders
Affective Symptoms
Affective Symptoms
Affective Symptoms
Speech Disorders
Attention deficit disorder with hyperactivity
Speech Disorders
Ataxia
Reflex, Abnormal
Polyuria
Carcinoma
Serotonin
Pain Insensitivity, Congenital
Neurodegenerative Diseases
Seizures
Spasms, Infantile
Infection
Infertility, male
Endophthalmitis
Behavioral Symptoms
Hernia, Inguinal
Ear Deformities, Acquired
Stereotyped Behavior
Signs and Symptoms, Digestive
Communication Disorders
Psychomotor Disorders
Cerebellar Ataxia
Intestinal Diseases
Lipoma
Cholestasis, Intrahepatic
Cholestasis, Intrahepatic
Retinal Perforations
Myoclonus
Albinism, Ocular
Eye color
Coloboma
Eye Abnormalities
Eye abnormalities
Iris diseases
Bone Diseases
Bone Diseases
Malocclusion
Irritable Mood
Irritable Mood
Pruritus
Pruritus
Pruritus
Motor Skills Disorders
Social Behavior Disorders
Contracture

Joint hyperextensibility
Joint hypermobility
Joint laxity
Joint pain
J-shaped sella turcica
Kidney abnormalities
Kidney damage
Kidney tumors
Lack of anticipation for being picked up
Lack of energy
Lack of gaze monitoring by 18 months
Lack of motor coordination
Lack of muscle tone
Lack of shared enjoyment
Lack of spontaneous/imaginative play
Lactic acidosis
Lacunar skull
Language delay
Language development deficit
Language Developmental delay
Large abdominal mass
Large anteverted pinnae
Large eyes
Large fontanelles
Large medial incisors
Large mouth
Large, open mouth
Laryngotracheoesophageal cleft
Late puberty
Lax Abdominal muscles
Lax ligaments
Lax muscles
Learning disabilities
Learning disability
Leg cramps
Leiomyomatosis of esophagus
Leiomyomatosis of trachea and bronchi
Lenticonus
Leontiasis ossea
Lethargy
Leucocytes anomalies/Neutropenia
Leukocyte inclusion bodies
Light-sensitive dermatitis
Limb contractures
Limb shortening
Limb shortness
Limited imitation of activity/play before 36 months
Lissencephaly
Little or no eye contact
Livedo reticularis
Liver damage
Liver disease
Liver problems
Lobulated tongue
Long philtrum
Long tract signs
Long, narrow thorax
Looking pale
Loose skin
Loss of adaptive skills
Loss of appetite
Loss of body hair
Loss of central vision
Loss of communication skills
Loss of contrast sensitivity
Loss of eyebrows, eyelashes and beard
Loss of head control
Supplemental tables 10
Joint Instability
Joint instability
Joint instability
Arthralgia
Craniofacial Abnormalities
Kidney diseases
Kidney Failure
Kidney Neoplasms
Social Behavior Disorders
Asthenia
Developmental Disabilities
Motor Skills Disorders
Muscle Hypotonia
Behavioral Symptoms
Stereotyped Behavior
Acidosis, Lactic
Craniofacial Abnormalities
Language Development Disorders
Language Development Disorders
Language Development Disorders
Signs and Symptoms, Digestive
Ear Diseases
Eye Abnormalities
Craniofacial Abnormalities
Tooth Abnormalities
Mouth Abnormalities
Mouth Abnormalities
Respiratory System Abnormalities
Puberty
Musculoskeletal Abnormalities
Musculoskeletal Abnormalities
Muscular Diseases
Learning Disorders
Learning Disorders
Muscle Cramp
Leiomyomatosis
Leiomyomatosis
Lens Diseases
Hyperostosis Frontalis Interna
Sleep Stages
Neutropenia
Inclusion Bodies
Dermatitis
Contracture
Limb Deformities, Congenital
Limb Deformities, Congenital
Stereotyped Behavior
Nervous System Malformations
Reactive Attachment Disorder
Skin Diseases, Vascular
Liver Failure, Acute
Liver Diseases
Liver Diseases
Tongue Diseases
Maxillofacial Abnormalities
Neurologic Manifestations
Musculoskeletal Abnormalities
Anemia
Skin Manifestations
Adjustment Disorders
Eating Disorders
Alopecia
Vision Disorders
Learning Disorders
Vision Disorders
Alopecia
Craniomandibular Disorders

Loss of language skills after acquired
Loss of motor skills
Loss of playing and imaginary skills
Loss of sex drive
Loss of skills related to physical illness
Loss of skills related to school or profession
Loss of social interaction skills and responsiveness
Loss of targeted use of hands
Loving, happy and social demeanour
Low birth weight
Low blood sugar
Low muscle tone
Low nasal bridge
Low paroxonase
Low vision
Low, sloping forehead
Low/sloping forehead
Lower limb spasticity
Lower limb weakness
Low-set ears
Lumbar hyperlordosis
Lumbosacral dural ectasia
Lung cysts
Luxation of the hip
Lymphadenopathy
Lymphocyte dysfunction/Lymphopenia
Lysosomal ceroid storage
Macrocephaly
Macrothrombocytopenia
Macular Translucency
Malar hypoplasia
Male infertility
Malformations of the face
Malrotation of the gut
Mannerisms
Masklike facies
Meconium ileus
Median cleft lip
Megaloblastic anemia
Memory loss
Metaphyseal dysplasia
Metatarsus adductus
Methylcobalamin deficiency
Microbrachycephaly
Microcornea
Micrognathia
Micromelia
Micronodular cirrhosis
Micropenis
Microphthalmia
Microstomia
Middle ear abnormalities
Midface hypoplasia
Mild anemia
Mild digestive symptoms
Mild elbow, hip, knee contractures
Mild gross and fine motor clumsiness
Mild hypertriglyceridemia
Mild loss of sensation in limbs, fingers and toes
Mild respiratory symptoms
Mild scarring
Mineralized soft tissue mass
Minor facial dysmorphism
Missed menstrual periods
Missing front teeth (incisors)
Missing teeth
Missing toes
Supplemental tables 11
Learning Disorders
Motor Skills Disorders
Child Development Disorders, Pervasive
Libido
Disabled Persons
Disabled Children
Social Behavior Disorders
Motor Skills Disorders
Neurobehavioral Manifestations
Infant, Low Birth Weight
Hypoglycemia
Muscle Hypertonia
Craniofacial Abnormalities
Esterases
Vision, Low
Craniofacial Abnormalities
Craniofacial Abnormalities
Muscle Spasticity
Muscle Weakness
Craniofacial Abnormalities
Lordosis
Dilatation, Pathologic
Bronchogenic Cyst
Hip dislocation
Lymphatic Diseases
Lymphopenia
Lysosomal Storage Diseases, Nervous System
Craniofacial Abnormalities
Thrombocytopenia
Eye abnormalities
Craniofacial Abnormalities
Infertility, male
Maxillofacial Abnormalities
Gastrointestinal Diseases
Stereotypic Movement Disorder
Facies
Intestinal Obstruction
Cleft lip
Anemia, Megaloblastic
Memory disorders
Osteochondrodysplasias
Foot Deformities, congenital
Vitamin B 12 Deficiency
Microcephaly
Corneal Diseases
Micrognathism
Limb Deformities, Congenital
Fibrosis
Urogenital Abnormalities
Microphthalmos
Microstomia
Ear Deformities, Acquired
Maxillofacial Abnormalities
Anemia
Signs and Symptoms, Digestive
Contracture
Motor Skills Disorders
Hypertriglyceridemia
Hypesthesia
Respiratory Insufficiency
Skin Abnormalities
Calcinosis
Craniofacial Abnormalities
Genital Diseases, Female
Incisor
Incisor
Foot Deformities, Congenital

Mitochondrial disorders
Mitral insufficiency
Motor behavioral abnormalities
Motor tics
Mouthing or chewing behaviors
Mouthing, licking, touching: self stimulation (sensory)
Movement disorder
Movement dynamics abnormalities
Mucosal Ulceration
Multiple Ecchymoses
Multiple fractures (at birth)
Muscle cramps
Muscle spasm
Muscular guarding
Myelomeningocele
Myocardial Infarction
Myoclonic convulsions
Myoclonic seizures
Myoclonus, bilateral
Myopathic changes
Myopathy
Nail abnormalities
Narrow head
Narrow/high palate
Nasal character of speech
Nasal hypoplasia
Nasal speech
Nasal voice
Neck stretching
Neologism
Neonatal hypotonia
Nephrolithiasis
Nervous system abnormalities
Neurodegeneration
Neurofibromatosis
Neurologic problems
Neurological disorders
Neurological regression
Neutral hyperaminoaciduria
Night sweats
No babbling by 12 months
No fear of danger
No gestural communication by 12 months
No pretend play by 18 months
No real fears of danger
No sense of danger
No single words by 16 months
No tanning
No use of index finger
Nonsyndromic deafness
Nose abnormalities
Nose bleeds
Nystagmus
Obliteration of sinuses
Ocular hypertelorism
Ocular problems
Oculocutaneous albinism
Odd prosody of speech
Odontoid hypoplasia
Olfactory impairment
Olfactory lobe agenesis
Oligodactyly
Olydactyly
Omphalocele
Oncocytic cardiomyopathy
Opisthotonos
Optic neuropathy
Supplemental tables 12
Mitochondrial Diseases
Mitral Valve Insufficiency
Mental Disorders Diagnosed in Childhood
Tics
Behavioral Symptoms
Self Stimulation
Movement Disorders
Movement Disorders
Colitis, Ulcerative
Ecchymosis
Fractures, Spontaneous
Muscle Cramp
Muscle Spasticity
Muscle Cramp
Meningomyelocele
Myocarditis
Epilepsies, Myoclonic
Seizures
Myoclonus
Muscular Diseases
Muscular Diseases
Nails, Malformed
Craniofacial Abnormalities
Palate
Nasal obstruction
Nose Diseases
Nasal obstruction
Nasal obstruction
Stereotypic Movement Disorder
Language Development Disorders
Muscle Hypotonia
Kidney Calculi
Central Nervous System Diseases
Nerve Degeneration
Neurofibromatoses
Neurologic Manifestations
Neurologic Manifestations
Neurodegenerative Diseases
Aminoaciduria, Renal
Sweating
Language Development Disorders
Dangerous Behavior
Communication Disorders
Developmental Disabilities
Dangerous Behavior
Dangerous Behavior
Language Development Disorders
Skin abnormalities
Communication Disorders
Deafness
Nose Deformities, Acquired
Epistaxis
Nystagmus, Pathologic
Paranasal Sinus Diseases
Hypertelorism
Eye abnormalities
Albinism, Oculocutaneous
Speech Disorders
Odontodysplasia
Olfactory Nerve Diseases
Brain Diseases
Limb Deformities, Congenital
Limb Deformities, Congenital
Hernia, Umbilical
Cardiomyopathy, Hypertrophic
Central Nervous System Diseases
Optic Nerve Diseases

Organ failure in cases of sepsis
Organophosphate poisoning sensitivity
Orofacial dyspraxia
Osteoarthrosis
Osteogenic sarcoma
Osteopathia striata
Osteopenia
Overriding aorta
Oversensitivity to light
Oversensitivity to pain
Overweight
Ovotestis
Pachygyria (incomplete development of gyri)
Pain in the joints
Pain on the back
Painful bone deformity
Palpable mass in the flank or abdomen
Palpitation
Palpitations
Pancreatic cysts
Pancreatic fibrosis
Pancreatic insufficiency
Panic attacks
Papillary carcinoma of thyroid
Papillomas
Papillomatosis
Parathyroid absence
Parathyroid hypoplasia
Paravertebral stippling
Paresthesias
Parkinsonism
Paroxysmal laughter
Patchy alopecia
Patent ductus arteriosus
Pathologic fractures
Pectus carinatum
Pectus excavatum
Peculiar facies
Pelvic girdle muscle weakness
Perceptive deafness
Peripheral field loss
Peripheral neuropathy
Peroxisomal (Zellweger)
Perseverance
Persistent early evening sleep onset
Personality changes
Pes calcaneovarus
Pes cavus
Pes planus
Petechiae
Phonology deficits
Photosensitivity
Physical overactivity
Physical underactivity
Pigmentary abnormality of macula
Pigmentary retinopathy
Pigmentary retinopathy/chorioretinits
Pigmentation changes
Pigmented naevi
Platyspondyly
Polyarticular chondrocalcinosis
Polycystic kidney
Polycystic liver disease
Polyepiphyseal dysplasia
Polyneuropathy
Polyneuropathy (Refsum)
Polyostotic osteolytic expansile dysplasia
Supplemental tables 13
Sepsis
Phosphoric Acid Esters
Apraxias
Osteoarthritis
Osteosarcoma
Osteosclerosis
Bone Diseases, Metabolic
Heart Valve Diseases
Photosensitivity Disorders
Hyperalgesia
Weight gain
Hermaphroditism
Nervous System Malformations
Arthralgia
Back Pain
Bone Diseases, Developmental
Signs and Symptoms, Digestive
Arrhythmia
Tachycardia
Pancreatic Cyst
Pancreatic Diseases
Exocrine Pancreatic Insufficiency
Panic disorder
Carcinoma, Papillary
Papilloma
Papilloma
Parathyroid Diseases
Parathyroid Diseases
Chondrodysplasia Punctata
Paresthesia
Parkinsonian Disorders
Behavioral Symptoms
Alopecia areata
Ductus Arteriosus, Patent
Fractures, Spontaneous
Bone diseases, Developmental
Funnel Chest
Facies
Muscle Weakness
Deafness
Amblyopia
Peripheral Nervous System Diseases
Zellweger Syndrome
Stereotyped Behavior
Sleep Disorders, Circadian Rhythm
Behavioral Symptoms
Foot Deformities, Congenital
Foot Deformities
Flatfoot
Purpura
Articulation Disorders
Photosensitivity Disorders
Hyperkinesis
Hypokinesia
Eye abnormalities
Retinitis Pigmentosa
Retinitis Pigmentosa
Pigmentation Disorders
Hyperpigmentation
Spinal Diseases
Chondrocalcinosis
Polycystic Kidney Diseases
Liver Diseases
Osteochondrodysplasias
Polyneuropathies
Refsum Disease
Osteolysis

Polyps of the nose
Poor concentration and focus
Poor control of movement
Poor discipline
Poor exercise tolerance
Poor feeding
Poor fine motor coordination
Poor gross motor coordination
Poor growth
Poor neonatal suck and swallow reflexes
Poor stamina
Poor suck
Poor wound healing
Poorly aerated mastoids
Porencephaly
Postaxial polydactyly
Postmenopausal osteoporosis
Postural reflex loss
Potential lethal coma
Precocious atherosclerosis
Premature arthritis
Premature osteoarthritis
Prenatal growth failure
Presence of various infections
Primary liver cancer
Problems around the mouth
Progressive encephalomyopathy
Progressive myopathy
Progressive neurodegeneration
Progressive spasticity
Prolonged bleeding
Prominent choroidal vessels
Prominent ears
Prominent forehead
Prominent nasal bridge
Protein in the urine
Protruding tongue
Pseudogout
Pseudomonas colonization
Pseudoosteoarthritis
Psychomotor retardation
Psychosis
Ptosis
Pulmonary blebs
Pulmonary hypoplasia
Pulmonary insufficiency
Pulmonary Valve atresia
Punctate epiphysis
Quadriparesis
Rapid respiratory rate
Rash
Raynaud's phenomenon
Rectal bleeding
Recurrent acute otitis
Recurrent emesis
Recurrent episodes of liver failure
Recurrent epistaxis
Recurrent joint subluxation
Recurrent or incisional hernia
Recurrent pneumonia
Recurrent respiratory infections
Red blood cell deficiency
Red coloration
Reddened patches on the skin
Redness
Reduced energy expenditure
Reduced respiratory function
Supplemental tables 14
Nasal Polyps
Neurobehavioral Manifestations
Motor Skills Disorders
Neurobehavioral manifestations
Exercise Tolerance
Feeding and Eating Disorders of Childhood
Motor Skills Disorders
Motor Skills Disorders
Growth
Deglutition Disorders
Physical Endurance
Sucking Behavior
Hemorrhage
Mastoiditis
Brain Diseases
Polydactyly
Osteoporosis, Postmenopausal
Reflex, Abnormal
Coma
Arteriosclerosis
Arthritis
Osteoarthritis
Prenatal injuries
Infection
Liver Neoplasms
Oral Manifestations
Mitochondrial Encephalomyopathies
Muscular Diseases
Nerve Degeneration
Muscle Spasticity
Hemorrhage
Eye Diseases
Ear Deformities, Acquired
Craniofacial Abnormalities
Craniofacial Abnormalities
Proteinuria
Macroglossia
Chondrocalcinosis
Pseudomonas Infections
Osteoarthritis, knee
Psychomotor Disorders
Psychotic Disorders
Blepharoptosis
Lung Diseases
Lung Diseases
Pulmonary Valve Insufficiency
Pulmonary Atresia
Chondrodysplasia Punctata
Quadriplegia
Hyperventilation
Exanthema
Raynaud Disease
Gastrointestinal hemorrhage
Otitis
Vomiting
Liver Failure
Epistaxis
Joint instability
Hernia
Pneumonia
Respiratory Tract Infections
Anemia
Exanthema
Exanthema
Skin Manifestations
Metabolism, Inborn Errors
Respiratory Insufficiency

Reduced tendon reflexes
Reduced visual acuity
Renal abnormalities
Renal agenesis
Renal cystic dysplasia
Renal dysplasia
Renal failure
Renal function impairment
Repeated focal pressure neuropathy
Repetitive movements
Resistence to colchicine
Respiratory difficulties
Respiratory distress
Respiratory problems
Restless
Restricted, stereotyped and repetitive behavior
Restrictive lung disease
Retinal albinism
Retinal atrophy
Retinal colobomas
Retinal dystrophy
Retrognathia
Rett's Syndrome
Rheumatiod arthritis
Right upper quadrant abdominal pain
Rigidity
Ring scotomata
Rocker-bottom feet
Rocking
Rough tooth surface
Round face
Round facies
Sacral agenesis
Scapular winging
Sciatic notch spur
Sclerocornea
Sclerotic calvarium
Sclerotic skull base
Scrotal hypoplasia
Self injurious behavior
Self-injurious stereotyped movements
Sensations of numbness
Sensorineural Deafness
Sensorineural hearing loss
Sensory abnormalities
Sensory ataxia
Sensory loss
Septal defects
Severe CNS defects
Severe developmental delay
Severe photosensitivity
Sexual difficulties
Short bifid sternum
Short Fibulae
Short limbs
Short long bones
Short metacarpals
Short metatarsal
Short nasal septum
Short neck
Short of breath
Short palpebral fissures
Short phalanges
Short stature
Short thumbs
Short toes
Short ulnae
Supplemental tables 15
Reflex, Abnormal
Vision disorders
Kidney Failure
Urogenital Abnormalities
Kidney Failure
Multicystic Dysplastic Kidney
Kidney Failure
Kidney Failure
Hereditary Motor and Sensory Neuropathies
Stereotyped Behavior
Colchicine
Respiratory Insufficiency
Respiratory Insufficiency
Respiratory Insufficiency
Psychomotor Agitation
Stereotyped Behavior
Lung Diseases
Albinism, Ocular
Retinal Degeneration
Coloboma
Retinal Degeneration
Retrognathism
Rett Syndrome
Rheumatic Fever
Abdominal pain
Muscle Rigidity
Scotoma
Foot Deformities, congenital
Stereotypic Movement Disorder
Tooth Abnormalities
Craniofacial Abnormalities
Facies
Spinal Diseases
Musculoskeletal Abnormalities
Sciatic Neuropathy
Corneal Opacity
Skull base neoplasms
Sclerosis
Genital Diseases, Male
Self-Injurious Behavior
Self-Injurious Behavior
Hypesthesia
Hearing loss, sensorineural
Hearing Loss, Sensorineural
Sensation Disorders
Ataxia
Ataxia
Heart Septal Defects
Central Nervous System Diseases
Developmental Disabilities
Photosensitivity Disorders
Sexual Dysfunctions, Psychological
Bone diseases, Developmental
Lower Extremity Deformities, Congenital
Limb Deformities, Congenital
Bone Diseases
Limb Deformities, Congenital
Limb Deformities, Congenital
Nasal Septum
Musculoskeletal Abnormalities
Dyspnea
Eyelid Diseases
Limb Deformities, Congenital
Dwarfism
Hand Deformities, Congenital
Foot Deformities, congenital
Upper Extremity Deformities, Congenital

Supplemental tables 16
Short, horizontal ribs
Shortened metacarpals (hand and foot)
Shortened phalanges (hand and foot)
Shortness of breath
Shoulder girdle muscle weakness
Shrill screaming
Single kidney
Skeletal abnormalities
Skeletal back pain
Skeletal dysmorphic features
Skeletal malformations
Skin atrophy
Skin rash
Skin rashes
Skin spots
Skull abnormalities
Sleep apnea syndrome
Sleep disturbances
Slow growth
Small but otherwise normal eye
Small fingernails
Small pelvis
Small penis
Small teeth
Small, wide mouth
Small-appearing mouth
Soft calvaria
Soft voice
Spastic diplegia
Spastic gait
Spastic pyramidal symptoms
Spastic quadriplegia
Spastic tetraplegia
Spasticity
Spatial visualization aptitude
Special, on itself standing, competence: calculating
Special, on itself standing, competence: drawing
Special, on itself standing, competence: memory
Special, on itself standing, competence: music
Special, on itself standing, competence: reading
Special, on itself standing, competence: visuospatial skills
Speech articulation problems
Speech defect
Speech delay
Speech developmental delay
Speech impairments
Speech problems
Sphincter disturbances
Spina bifida
Spinning
Splayed labia majora
Spongiosis
Spontaneous pneumothorax
Squint/paresis of ocular muscles
Staring spells
Static Hemeralopia
Stature
Steppage gait
Stereotyped Language use
Sterility/Hypofertility
Stiff-legged walking style
Stippled or fragmented epiphyses
Stools narrower than usual
Stria
Striae distensae
Stroke
Subacute necrotising encephalomyelopathy
Musculoskeletal Abnormalities
Limb Deformities, Congenital
Limb Deformities, Congenital
Dyspnea
Muscle Weakness
Voice disorders
Urogenital Abnormalities
Musculoskeletal Abnormalities
Back Pain
Musculoskeletal Abnormalities
Musculoskeletal Abnormalities
Atrophy
Exanthema
Exanthema
Hyperpigmentation
Craniofacial Abnormalities
Sleep Apnea Syndromes
Behavioral Symptoms
Failure to thrive
Microphthalmos
Nails, Malformed
Musculoskeletal Abnormalities
Urogenital Abnormalities
Tooth Abnormalities
Microstomia
Microstomia
Craniofacial Abnormalities
Voice Disorders
Cerebral Palsy
Gait Disorders, Neurologic
Muscle Spasticity
Quadriplegia
Quadriplegia
Muscle Spasticity
Vision Disorders
Child, Gifted
Child, Gifted
Child, Gifted
Child, Gifted
Child, Gifted
Child, Gifted
Articulation Disorders
Language Development Disorders
Language Development Disorders
Language Development Disorders
Language Development Disorders
Speech Disorders
Muscle Hypertonia
Spinal Dysraphism
Stereotypic Movement Disorder
Vulvar diseases
Dermatitis
Pneumothorax
Ocular Motility Disorders
Consciousness Disorders
Vision Disorders
Body Height
Gait Disorders, Neurologic
Stereotyped Behavior
Infertility
Psychomotor Disorders
Chondrodysplasia Punctata
Fecal Impaction
Skin Manifestations
Skin Manifestations
Cerebrovascular Accident
Leigh Disease

Subacute progressive viral hepatitis
Subcutaneous ossifications
Succinate coenzyme Q reductase
Sun sensitivity
Swallowing difficulties
Swallowing difficulty
Sweat chloride elevation
Swelling in neck
Swelling in the lymph nodes
Swelling of joints
Swelling/Redness at site of bone pain
Symptoms of phlebitis
Synophris
Systemic Lupus erythematosus
Tachypnea
Talipes
Talipes calcaneovalgus
Tanning
Tantrums
Tapered digits
Teeth malalignment
Telangiectasia
Telecanthus
Telescoped femur
Temperature instability
Tenderness
Tenesmus
Testicular atrophy
Tetraplegia
Thick cerebral cortex
Thick eyelids
Thick lips
Thick nasal septum
Thick skin
Thick, everted lower lip
Thick, viscous saliva
Thickened calvarium
Thin and small in stature
Thin enamel
Thin skin
Thin upper lip
Thin, velvety skin
Thoracolumbar gibbus
Thoughts becoming disjointed and jumbled
Thumb anomalies (other than hypoplasia)
Thymic hypoplasia
Thyroid carcinoma
Tightness in joints
Tingling numbness in legs
Tiredness
Tone not changing with age
Tongue hamartoma
Transposition of the great arteries
Transverse palmar creases
Tremors of the hands
Triangular face
Trichodiscomas
Trident acetabular roofs
Tritanopia
Truncus Arteriosus
Truncus arteriosus communis
Turner's syndrome
Turribrachycephaly
Turricephaly
Ulcerative colitis
Umbilical hernia
Unable to understand others' emotional state
Supplemental tables 17
Hepatitis, Viral, Human
Ossification, Heterotopic
Electron Transport Complex II
Photosensitivity Disorders
Deglutition Disorders
Deglutition Disorders
Chlorides
Thyroid Neoplasms
Leukemia, Lymphocytic
Joint Diseases
Contusions
Phlebitis
Hair Diseases
Lupus Erythematosus, Systemic
Sleep Disorders
Clubfoot
Foot Deformities
Skin abnormalities
Aggression
Limb Deformities, Congenital
Malocclusion
Telangiectasis
Hypertelorism
Lower Extremity Deformities, Congenital
Body Temperature Changes
Wasting Syndrome
Abdominal pain
Atrophy
Quadriplegia
Nervous System Malformations
Eyelid Diseases
Lip Diseases
Nasal Septum
Skin abnormalities
Lip Diseases
Salivary Gland Diseases
Craniofacial Abnormalities
Thinness
Dental Enamel Hypoplasia
Skin Abnormalities
Lip Diseases
Ehlers-Danlos Syndrome
Bone diseases, Developmental
Schizophrenia and Disorders with Psychotic Features
Hand Deformities, acquired
Thymus Neoplasms
Carcinoma
Ankylosis
Hypesthesia
Fatigue
Skin abnormalities
Tongue Neoplasms
Aortic Diseases
Hand Deformities, Congenital
Tremor
Craniofacial Abnormalities
Hair Diseases
Musculoskeletal Abnormalities
Color Vision Defects
Aortic Diseases
Aortic Diseases
Turner Syndrome
Craniosynostoses
Craniosynostoses
Colitis, Ulcerative
Hernia, Umbilical
Social Behavior Disorders

Supplemental tables 18
Unaware of other's 'personal space'
Unaware of Social Rules
Undersensitivity to pain
Uneven fine motor skills
Uneven gross motor skills
Unilateral renal agenesis
Untreated phenylketonuria
Unusual facial characteristics
Unusual preoccupations or a narrow range of interests
Unusual reactions to sensual stimuli
Unusual sensual interests
Unusual thirst
Unusually large platelets
Upslanting palpebral fissures
Ureteral Abnormalities
Ureterohydronephrosis
Urinary urgency
Urologic Abnormality
Valvular heart disease
Vas deferens aplasia
Vascular hypertension
Ventricular dilatation
Ventricular septal defect
Ventriculomegaly
Verbal Rituals
Vestibular function defect
Vision abnormalities
Vision disturbances
Visual compromise
Visual field defects
Visual impairment
Visual loss
Vitamin D-resistant rickets
Vocal tics
Walking on tiptoes
Weakness
Weakness of hip and ankle flexion
Wheeze
Wheezing
White blood cell deficiency
White skin at birth
Widely spaced teeth
Widened metaphyses
Wide-spaced teeth
Wilson's disease
Window's peak
Wormian bones
Writer's cramp
Reactive Attachment Disorder
Social Behavior Disorders
Hypesthesia
Motor Skills Disorders
Motor Skills Disorders
Kidney diseases
Phenylketonurias
Craniofacial Abnormalities
Obsessive Behavior
Perceptual Disorders
Sensation Disorders
Thirst
Blood Platelet Disorders
Eyelid Diseases
Ureteral Diseases
Hydronephrosis
Urologic Diseases
Urologic Diseases
Heart Valve Diseases
Genital Diseases, Male
Hypertension, Renovascular
Ventricular Dysfunction
Heart Septal Defects, Ventricular
Heart Septal Defects, Ventricular
Ceremonial Behavior
Vestibular Diseases
Vision disorders
Vision disorders
Vision, Low
Amblyopia
Vision, Low
Vision Disorders
Hypophosphatemia, Familial
Tics
Psychomotor disorders
Muscle Weakness
Musculoskeletal Abnormalities
Respiratory Sounds
Respiratory Sounds
Leukopenia
Hypopigmentation
Malocclusion
Bone Diseases
Malocclusion
Hepatolenticular Degeneration
Hair Diseases
Osteogenesis Imperfecta
Dystonic Disorders

Supplemental tables 19
1.
2.
3.
4.
5.
C17.800
C05.660.207
A17.360
C05.660
C23.888.885
6.
7.
8.
9.
C05.116.198.579
C05.660.207.620
C13.371.852
C05.660.585
10. C18.452.950.565
11. C17.800.946
12. A04.623.557
13. A05.810
14. A05
15. C10.597.617
16. C05.116.099.370
17. C05.116.099
18. C05.116.198
19. C16.131
Skin diseases
Craniofacial abnormalities
Hair
Musculoskeletal abnormalities
Skin manifestations
Osteoporosis
Microcephaly
Uterine diseases
Limb deformities, congenital
Hypokalemia
Sweat gland diseases
Nasopharynx
Urinary tract
Urogenital system
Pain
Dysostosis
Bone diseases, developmental
Bone diseases, metabolic
Abnormalities
4
4
6
9
8
11
4
7
13
13
12
13
10
9
4
10
11
8
13
0.00529947
0.00789921
0.01009899
0.01049895
0.01329867
0.01589841
0.01609839
0.02129787
0.02459754
0.02679732
0.03019698
0.03259674
0.04169583
0.04219578
0.04319568
0.04439556
0.04459554
0.04629537
0.04759524

Supplemental tables 20
1.
2.
3.
4.
5.
C13.371.852
C23.888.885
C07.793.494
F03.550.300
A17.360
6.
7.
8.
9.
C23.550.291.812
C05.660.207.620
A14.521.658
C23.300.175
10. C07.650
11. C17.800
12. C17
13. C19.391.482
Uterine diseases
Skin manifestations
Malocclusion
Child behavior disorders
Hair
Facies
Microcephaly
Palate
Calculi
Stomatognathic system abnormalities
Skin diseases
Skin and connective tissue diseases
Hypogonadism
14. C10.597.617 Pain
15. C10.597.606.150.500.550 Language development disorders
16. C13.371
17. C05.116.099.343
Genital diseases, female
Dwarfism
18. C18.452.950.565
19. C05.116.099
20. C17.800.946
21. C05.116.198.579
Hypokalemia
Bone diseases, developmental
Sweat gland diseases
Osteoporosis
22. C06.130.564
23. C05.500.460
24. C05.660.207
25. C10.292
26. A04.623.557
27. C10.228.140.490.631
28. C04.588
29. C06.405.469
Gallbladder diseases
Jaw abnormalities
Craniofacial abnormalities
Cranial nerve diseases
Nasopharynx
Seizures
Neoplasms by site
Intestinal diseases
30. C10.228.140.490
31. A05.810
32. A05
33. C05.116.099.370.894
34. C16.131.831
35. C15.378.100.802
36. C17.800.329
37. C06.405.469.158
Epilepsy
Urinary tract
Urogenital system
Synostosis
Skin abnormalities
Purpura
Hair diseases
Colonic diseases
4
11
13
13
6
13
8
9
6
7
10
12
4
13
4
8
8
4
8
6
13
9
9
7
8
11
8
4
13
13
13
6
5
11
6
4
12
0.00369963
0.00379962
0.00649935
0.01009899
0.01169883
0.01239876
0.01569843
0.01579842
0.01769823
0.01989801
0.0209979
0.02279772
0.02439756
0.02449755
0.02489751
0.02679732
0.02779722
0.02909709
0.02979702
0.0309969
0.03159684
0.03249675
0.03259674
0.03267673
0.03479652
0.03559644
0.04149585
0.04209579
0.04439556
0.04469553
0.04489551
0.04509549
0.04649535
0.04679532
0.0479952
0.04889511
0.04939506