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Houge-Janssens syndrome 3(NEDLBA; HJS3)

MedGen UID:
1677130
Concept ID:
C5193048
Disease or Syndrome
Synonym: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
 
PPP2CA (5q31.1)
 
Monarch Initiative: MONDO:0032697
OMIM®: 618354

Definition

Houge-Janssens syndrome-3 (HJS3) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019). For a discussion of genetic heterogeneity of HJS, see HJS1 (616355). [from OMIM]

Clinical features

From HPO

Supplemental Content

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