Intellectual developmental disorder, X-linked, syndromic, cabezas type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, cabezas type;

Symbol : MRXSC;

CISMeF acronym : MRSS; MRXSC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cabezas syndrome; Mental retardation, X-linked, syndromic 15; MRXS15; MRSS; Mental retardation, X-linked, with short stature; Mental retardation, X-linked, with short stature, hypogonadism, and abnormal gait; Mental retardation, X-linked, syndromic, cabezas type;

Description : This form of syndromic X-linked mental retardation is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor (Cabezas et al., 2000).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the cullin 4B gene (CUL4B, 300304.0001);

Prefixed ID : #300354;

Details

Origin ID

300354;

UMLS CUI

C1845861;

Automatic exact mappings (from CISMeF team)
- CUL4B wt Allele [NCIt concept]
- mental retardation, X-Linked, with short stature [MeSH concept]
- mental retardation, X-Linked, with short stature [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Chudley-Schwartz type [DO Concept]
Currated CISMeF NLP mapping
- Cabezas syndrome [Disease (Nov.)]
- Mental Retardation, X-Linked, Syndromic, Cabezas Type [NCIt concept]
- X-linked intellectual disability Cabezas type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Cabezas type [ORDO Disease]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH Supplementary Concept]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH concept]
- syndromic X-linked intellectual disability Cabezas type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Cabezas type [DO Concept]
Genes related to phenotype
- Cullin 4b [OMIM gene]
HPO term(s)
- Abdominal obesity [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of the musculature [HPO term]
- Abnormality of the pinna [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Coarse facial features [HPO term]
- Cortical dysplasia [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Delayed puberty [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Gynecomastia [HPO term]
- High forehead [HPO term]
- Hyperactivity [HPO term]
- Hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Macroglossia [HPO term]
- Mandibular prognathia [HPO term]
- Micropenis [HPO term]
- Mood swings [HPO term]
- Motor delay [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Polymicrogyria [HPO term]
- Relative macrocephaly [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Speech delay [HPO term]
- Striae distensae [HPO term]
- Thick lower lip vermilion [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Cabezas type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cabezas syndrome [Disease (Nov.)]
- Mental Retardation, X-Linked, Syndromic, Cabezas Type [NCIt concept]
- X-linked intellectual disability Cabezas type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Cabezas type [ORDO Disease]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH Supplementary Concept]
- mental retardation, X-Linked, with brachydactyly and macroglossia [MeSH concept]

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