ZFIN Human Disease: Pitt-Hopkins-like syndrome 2

OBO ID: DOID:0111332

Term Name:	Pitt-Hopkins-like syndrome 2		Search Ontology:
Synonyms:	PTHSL2
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 the NRXN1 gene on chromosome 2p16.3. (2)
References:	OMIM:614325
Ontology:	Human Disease ( DOID:0111332 )

Relationships

is a type of:	autosomal recessive disease syndromic intellectual disability autosomal recessive disease syndromic intellectual disability Show first 5 Terms

OTHER Pitt-Hopkins-like syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NRXN1	nrxn1a nrxn1b	Pitt-Hopkins-like syndrome 2	614325

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None