ZFIN Human Disease: syndromic X-linked intellectual disability 17

OBO ID: DOID:0060803

Term Name:	syndromic X-linked intellectual disability 17		Search Ontology:
Synonyms:	intellectual disability-alacrima-achalasia syndrome mental retardation, X-linked, syndromic 17 X-linked mental retardation with alacrima and achalasia
Definition:	A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. https://www.ncbi.nlm.nih.gov/pubmed/21744492
References:	OMIM:300858 ORDO:289483
Ontology:	Human Disease ( DOID:0060803 )

Relationships

is a type of:	syndromic X-linked intellectual disability X-linked recessive disease syndromic X-linked intellectual disability X-linked recessive disease Show first 5 Terms

OTHER syndromic X-linked intellectual disability 17 PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None