Human (92 sources):
Abnormal facial shape,
Abnormal pinna morphology,
Abnormality of the cervical spine,
Acromesomelia,
Amblyopia,
Anterior pituitary hypoplasia,
Anxiety,
Aortic regurgitation,
Aortic valve stenosis,
Arachnodactyly,
Astigmatism,
Ataxia,
Autism,
Autistic behavior,
Behavioral abnormality,
Birth length less than 3rd percentile,
Breast hypoplasia,
Bulbous nose,
Cerebral cortical atrophy,
Clinodactyly of the 5th finger,
Corneal opacity,
Cryptorchidism,
Deeply set eye,
Delayed speech and language development,
Duodenal atresia,
Eczematoid dermatitis,
Enlarged cisterna magna,
Exotropia,
Failure to thrive,
Failure to thrive in infancy,
Febrile seizure (within the age range of 3 months to 6 years),
Feeding difficulties,
Feeding difficulties in infancy,
Gait disturbance,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
Hallux valgus,
Happy demeanor,
Hydronephrosis,
Hyperactivity,
Hypermetropia,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Hypospadias,
Hypotelorism,
Inappropriate laughter,
Incoordination,
Intellectual disability,
Intellectual disability, severe,
Intrauterine growth retardation,
Kyphosis,
Macrotia,
Microcephaly,
Micrognathia,
Micropenis,
Motor stereotypy,
Multiple joint contractures,
Myopia,
Narrow forehead,
Narrow nasal tip,
Oligohydramnios,
Optic disc pallor,
Patent ductus arteriosus,
Pectus excavatum,
Pelvic kidney,
Polydactyly,
Poor speech,
Primary microcephaly,
Prominent nasal bridge,
Protruding ear,
Pyloric stenosis,
Recurrent infections,
Renal cyst,
Scoliosis,
Seizure,
Severe global developmental delay,
Short stature,
Small for gestational age,
Smooth philtrum,
Stereotypical hand wringing,
Strabismus,
Structural foot deformity,
Thick lower lip vermilion,
Thickened helices,
Thin upper lip vermilion,
Toe syndactyly,
Unilateral renal agenesis,
Ventricular septal defect,
Ventriculomegaly,
Visual impairment,
Vomiting
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.