| Phenotype details |
weight 104.1 cm (-1.59SD), height 16.8kg (-1.02SD), OFC 46.4 cm (-4.12SD); microcephaly (HP:0000252); 21m-walk; delayed speech, 12m-first words, 50 words; moderate global developmental delay (HP:0011343; moderate intellectual disability (HP:0002342); on the Wechsler preschool and primary scale of intelligence, fourth edition, his non verbal index 50, fluid reasoning 59, and vocabulary acquisition index 45; behavioral abnormalities (HP:0000729) (HP:0000708), hyperkinesis, poor self control, needs constant supervision; visual impairment (HP:0000505); optic nerve abnormalities (HP:0000609), left optic nerve atrophy; refraction abnormalities (HP:0001257), anisometric hypermetropia and astigmatism of left eye, at risk for amblyopia of left eye, glasses prescribed 6/2022; no strabismus (-HP:0000486); no seizures (-HP:0001250); no dystonia (-HP:0001332); spasticity (HP:0001257), both ankles with tone 1+/4 (modified ashworth scale) and a few beats of clonus, not notable about the knee or hip; hypotonia (HP:0001252); limb hypertonia (HP:0002509); gait ataxia (HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); pes planus with inward rotation ankles, posture is looser today than previous exam, grips with toes while walking, right sided preference not as noticeable today; no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); first and fifth finger curvature, pes planus with inward rotation of the ankles, mild trigonocephaly and brachycephaly with occipital groove, eyes are deep set with epicanthus, ears are slightly cupped with thick helices, round nasal tip with wide columella, mouth broad, teeth are wide spaced; prefers to keep arms flexed and away from body; grips with toes while walking |
