Intellectual developmental disorder, autosomal dominant 48

Preferred Label : Intellectual developmental disorder, autosomal dominant 48;

Symbol : MRD48;

CISMeF acronym : MRD48;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 48;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Rac family small GTPase 1 gene (RAC1, 602048.0001);

Prefixed ID : #617751;

Details

Origin ID

617751;

UMLS CUI

C4540321;

Automatic exact mappings (from CISMeF team)
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant mental retardation 48 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 48 [DO Concept]
Genes related to phenotype
- Ras-related c3 botulinum toxin substrate 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the pinna [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cerebellar dysplasia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Dilated fourth ventricle [HPO term]
- Dilation of lateral ventricles [HPO term]
- Dysgenesis of the cerebellar vermis [HPO term]
- Eczema [HPO term]
- Enlarged cisterna magna [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Highly arched eyebrow [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long palpebral fissure [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Open mouth [HPO term]
- Polymicrogyria [HPO term]
- Prominent nasal bridge [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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