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Metadata
ID DOID:0111332
Name Pitt-Hopkins-like syndrome 2
Definition A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3.
https://www.ncbi.nlm.nih.gov/pubmed/19896112, https://www.ncbi.nlm.nih.gov/pubmed/22617343
Xrefs

OMIM:614325

Synonyms

PTHSL2 [EXACT]

Parent Relationships

is_a syndromic intellectual disability

is_a autosomal recessive disease

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