has material basis in germline mutation in TBCK syndromic intellectual disability hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies 3 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_3 IHPRF3 GARD:0017896 Orphanet:488632 A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies type 3 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MEDGEN:1798903 UMLS:C5567480 DOID:0060935 OMIM:616900