| Phenotype details |
14m-height 79cm (+0.01SD), 17m-weight 11.9kg (+0.45SD), 14m-OFC 2.4cm (-4.4SD), 5m-0SD; microcephaly (HP:0000252); 21m-not walking; 21m-no speech; severe global developmental delay (HP:0011344); severe intellectual disability (HP:0010864); no behavioral abnormalities (-HP:0000729) (-HP:0000708); visual impairment (HP:0000505); optic nerve abnormalities (HP:0000609), optic nerve hypoplasia with mild pallor of optic discs; refraction abnormalities (HP:0001257), mild myopia; strabismus (HP:0000486), intermittent esotropia; congenital nystagmus, bilateral ptosis; no seizures (-HP:0001250); no dystonia (-HP:0001332); spasticity (HP:0001257); hypotonia (HP:0001252); no limb hypertonia (-HP:0002509); no gait ataxia (-HP:0002066), not ambulatory; congenital nystagmus (HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); clubfoot lefts; no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); small cerebral cortex (HP:0002472); abnormal corpus callosum morphology (HP:0001273), thinning; normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); absent anterior limb of internal capsule; small for gestational age, congenital microcephaly; prominent nasal root, large appearing lowset ears, thin upper lip, bilateral vertical talus deformity, lymphedema of both legs, mild laryngomalacia, positional plagiocephaly |
