ZFIN Human Disease: neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

OBO ID: DOID:0081099

Term Name:	neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies		Search Ontology:
Synonyms:	autosomal recessive mental retardation 36
Definition:	An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/30296593/
References:	OMIM:615286
Ontology:	Human Disease ( DOID:0081099 )

Relationships

is a type of:	autosomal recessive intellectual developmental disorder autosomal recessive intellectual developmental disorder Show first 5 Terms

OTHER neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ADAT3	adat3	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	615286

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None