Houge-Janssens Syndrome 1 (HJS1)

Alias:

Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome

Mrd35

Intellectual Developmental Disorder, Autosomal Dominant 35

Autosomal Dominant Intellectual Developmental Disorder 35

Autosomal Dominant Non-Syndromic Intellectual Disability 35

Mental Retardation, Autosomal Dominant, Type 35

Mental Retardation, Autosomal Dominant 35

Autosomal Dominant Mental Retardation 35

Hjs1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Houge-Janssens Syndrome 1, also known as intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome, is related to ppp2r5d-related intellectual disability and houge-janssens syndrome 2. An important gene associated with Houge-Janssens Syndrome 1 is PPP2R5D (Protein Phosphatase 2 Regulatory Subunit B'Delta), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include heart and eye, and related phenotypes are macrocephaly and global developmental delay

Related ID：

MALACARDS：HGJ001

OMIM：616355

MESH：D008607