| Phenotype details |
height 85 cm (-4,36SD), weight 12.1 kg (-2,6SD), 2y9m-OFC 45 cm (-4.26SD), decreased growth velocity; microcephaly (HP:0000252); 3y1m-stand with support; significantly delayed speech, 2y-11m-babbling; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no behavioral abnormalities (-HP:0000729) (-HP:0000708); visual impairment (HP:0000505); optic nerve abnormalities (HP:0000609), hypoplasia of optic nerve; refraction abnormalities (HP:0001257), +2.00 bilaterally; strabismus (HP:0000486), fixes and follows; mild pallor of disc, tortuous vessels; no seizures (-HP:0001250); dystonia (HP:0001332); spasticity (HP:0001257), hip spasticity; hypotonia (HP:0001252), upper extremities; limb hypertonia (HP:0002509) legs; not walking; no nystagmus (-HP:0000639); yes; head lag to about 30 degrees, in prone lifts head to 45 degrees but does not tolerate positioning; no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); no ventriculomegaly (-HP:0002119); small cerebral cortex (HP:0002472), likely with diffusely enlargement of the subarachnoid spaces over the cerebral convexities; abnormal corpus callosum morphology (HP:0001273), dysgenesis, near agenesis; abnormal cerebellar vermis morphology (HP:0002334), bilateral cerebellar hypogenesis with inferior vermian hypoplasia; abnormal brainstem morphology (HP:0002363), small brainstem; absent septum pellucidum (septo-optic dysplasia), bilateral insular polymicrogyria ; short stature; square, occipital plagiocephaly; unilateral single transverse crease (simean crease); edematous at 7 months with metatarsus adductus; congenital extrophy of the bladder with epispadias; vesico-ureteral reflux; gastrostomy tube dependent; congenital inguinal hernia; mild bilateral hydronephrosis, small secundum atrial septal defect ; septo-optic dysplasia, hearing impairment (wears hearing aids for mild sensorineural hearing loss) |
