Human (97 sources):
Abnormal anterior chamber morphology,
Abnormal cardiovascular system morphology,
Abnormality of the kidney,
Abnormality of the optic nerve,
Abnormality of the pancreas,
Accessory oral frenulum,
Acute myeloid leukemia,
Agenesis of corpus callosum,
Atrial septal defect,
Biparietal narrowing,
Broad alveolar ridges,
Broad palm,
Camptodactyly,
Camptodactyly of finger,
Cerebral cortical atrophy,
Chronic myelogenous leukemia,
Chronic myelomonocytic leukemia,
Cleft palate,
Cleft upper lip,
Convex nasal ridge,
Dandy-Walker malformation,
Deep palmar crease,
Deep plantar creases,
Delayed peripheral myelination,
Dislocated radial head,
Elbow dislocation,
Eosinophilia,
Facial hemangioma,
Failure to thrive,
Feeding difficulties,
Flexion contracture,
Full cheeks,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
Gray matter heterotopia,
Hearing impairment,
Hirsutism,
Hyperechogenic pancreas,
Hypertelorism,
Hypertrichosis,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Hypotonia,
Intellectual disability, profound,
Intellectual disability, severe,
Intestinal malrotation,
Intrauterine growth retardation,
Joint dislocation,
Limitation of joint mobility,
Long face,
Low anterior hairline,
Low-set ears,
Mastocytosis,
Mesomelic/rhizomelic limb shortening,
Microcephaly,
Micrognathia,
Myelodysplasia,
Myopia,
Narrow chest,
Narrow forehead,
Narrow palate,
Nevus flammeus,
Nevus flammeus of the forehead,
Non-Hodgkin lymphoma,
Overlapping toe,
Platyspondyly,
Polyhydramnios,
Posteriorly rotated ears,
Prominent forehead,
Prominent metopic ridge,
Proptosis,
Retinopathy,
Retrognathia,
Sacral dimple,
Seizure,
Short foot,
Short stature,
Short thorax,
Short toe,
Strabismus,
Supernumerary nipple,
Syndactyly,
Synophrys,
Talipes equinovarus,
Tapered finger,
Thick hair,
Trigonocephaly,
Ulnar deviation of finger,
Ulnar deviation of the wrist,
Underdeveloped supraorbital ridges,
Upslanted palpebral fissure,
Ventricular septal defect,
Ventriculomegaly,
Vesicoureteral reflux,
Wide intermamillary distance,
Wide nasal bridge
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