hypotonia, infantile, with psychomotor retardation and characteristic facies 3
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:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0014176
hypotonia, infantile, with psychomotor retardation and characteristic facies
is_a
IHPRF3
exact
TBCK ID-syndrome
exact
TBCK syndrome
exact
TBCK-related encephalopathy
exact
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
exact