PEHO-like syndrome
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
MONDO:0009841
PEHO syndrome
excluded_subClassOf
MONDO:0100545
hereditary neurological disease
is_a
PEHO syndrome-like
exact
PEHOL
related
peho-like syndrome
exact
progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
exact