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Houge-Janssens syndrome 1

MONDO:0014602

An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.

Also known as: MRD35, autosomal dominant intellectual disability 35, intellectual disability, autosomal dominant type 35, intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome, mental retardation, autosomal dominant type 35, autosomal dominant non-syndromic intellectual disability 35, intellectual disability, autosomal dominant 35, mental retardation, autosomal dominant 35

32 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 14 Not yet recruiting 5 Not yet finished but already full! 3 Completed 10
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