Houge-Janssens Syndrome 2 (HJS2)

Alias:

Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome

Mrd36

Intellectual Developmental Disorder, Autosomal Dominant 36

Autosomal Dominant Intellectual Developmental Disorder 36

Autosomal Dominant Non-Syndromic Intellectual Disability 36

Mental Retardation, Autosomal Dominant, Type 36

Mental Retardation, Autosomal Dominant 36

Autosomal Dominant Mental Retardation 36

Hjs2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Houge-Janssens Syndrome 2, also known as microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, is related to plasmacytoma and mechanical ectropion. An important gene associated with Houge-Janssens Syndrome 2 is PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha), and among its related pathways/superpathways are NF-kappaB Signaling and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include uterus and eye, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：HGJ002

OMIM：616362

MESH：D008607