Human (163 sources):
2-3 toe syndactyly,
Abnormal hair pattern,
Abnormal hip bone morphology,
Abnormality of the nervous system,
Abnormally large globe,
Abnormal skin morphology,
Absent thumbnail,
Aganglionic megacolon,
Agenesis of corpus callosum,
Ambiguous genitalia,
Anteverted nares,
Atonic seizure,
Attention deficit hyperactivity disorder,
Autistic behavior,
Axial hypotonia,
Babinski sign,
Bilateral tonic-clonic seizure,
Broad alveolar ridges,
Broad finger,
Broad nasal tip,
Broad phalanx of the toes,
Cerebellar atrophy,
Cerebral cortical atrophy,
Choreoathetosis,
Cleft palate,
Clinodactyly of the 2nd toe,
Coarse facial features,
Cryptorchidism,
Decreased testicular size,
Delayed eruption of teeth,
Delayed myelination,
Delayed speech and language development,
Depressed nasal bridge,
Developmental regression,
Diarrhea,
Diffuse cerebral atrophy,
Diffuse white matter abnormalities,
Downslanted palpebral fissures,
Drooling,
Duane anomaly,
Dysarthria,
Dyskinesia,
Dysphagia,
Dyspnea,
Dystonia,
EEG abnormality,
EEG with burst suppression,
EEG with spike-wave complexes,
Epileptic encephalopathy,
Episodic ataxia,
Exocrine pancreatic insufficiency,
Facial palsy,
Facial telangiectasia,
Failure to thrive,
Febrile seizure (within the age range of 3 months to 6 years),
Feeding difficulties in infancy,
Flexion contracture,
Floppy infant,
Focal dystonia,
Gait disturbance,
Generalized clonic seizure,
Generalized hirsutism,
Generalized hypotonia,
Generalized myoclonic seizure,
Generalized non-motor (absence) seizure,
Generalized tonic seizure,
Gliosis,
Global developmental delay,
Hemiplegia,
High forehead,
High palate,
Hirsutism,
Hyperactivity,
Hyperconvex nail,
Hyperreflexia,
Hypohidrosis,
Hypoplasia of penis,
Hypoplasia of the corpus callosum,
Hypospadias,
Hypotonia,
Hypsarrhythmia,
Infantile spasms,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, moderate,
Intellectual disability, profound,
Intellectual disability, progressive,
Intellectual disability, severe,
Limb dystonia,
Limb joint contracture,
Lissencephaly,
Long palpebral fissure,
Long philtrum,
Long upper lip,
Low anterior hairline,
Lower limb spasticity,
Low-set ears,
Macrocephaly,
Macroorchidism,
Malabsorption,
Meckel diverticulum,
Microcephaly,
Micrognathia,
Micropenis,
Midface retrusion,
Mild neurosensory hearing impairment,
Moderate sensorineural hearing impairment,
Muscle stiffness,
Myoclonus,
Neonatal hypotonia,
Nystagmus,
Obesity,
obsolete Focal seizures, afebril,
Optic atrophy,
Overlapping toe,
Pachygyria,
Patent ductus arteriosus,
Periorbital fullness,
Pes planus,
Poor head control,
Poor speech,
Precocious puberty,
Profound global developmental delay,
Prominent forehead,
Prominent nasal bridge,
Prominent supraorbital ridges,
Protruding ear,
Pyloric stenosis,
Renal dysplasia,
Renal hypoplasia/aplasia,
Rigidity,
Scoliosis,
Seizure,
Self-injurious behavior,
Severe global developmental delay,
Shortening of all distal phalanges of the fingers,
Short finger,
Short stature,
Sleep abnormality,
Sloping forehead,
Small for gestational age,
Spasticity,
Spastic tetraplegia,
Specific learning disability,
Status epilepticus,
Strabismus,
Synophrys,
Tapered finger,
Tetraplegia,
Thick lower lip vermilion,
Thin upper lip vermilion,
Tremor,
Triangular face,
Umbilical hernia,
Uni- and bilateral multifocal epileptiform discharges,
Ureterocele,
Urinary incontinence,
Ventricular septal defect,
Ventriculomegaly,
Visual impairment,
Wide anterior fontanel,
Wide nasal bridge,
Widened subarachnoid space
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