ZFIN Human Disease: syndromic X-linked intellectual disability Cabezas type

OBO ID: DOID:0060822

Term Name:	syndromic X-linked intellectual disability Cabezas type		Search Ontology:
Synonyms:	Cabezas syndrome; syndromic X-linked mental retardation 15 mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type) MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait
Definition:	A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. (2)
References:	GARD:13244 ICD10CM:Q87.8 OMIM:300354 ORDO:85293
Ontology:	Human Disease ( DOID:0060822 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CUL4B	cul4b	Intellectual developmental disorder, X-linked syndromic, Cabezas type	300354

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None