Ichthyosis, spastic quadriplegia, and impaired intellectual development

Preferred Label : Ichthyosis, spastic quadriplegia, and impaired intellectual development;

Symbol : ISQMR;

CISMeF acronym : ISQMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis, spastic quadriplegia, and mental retardation;

Description : This severe autosomal recessive disorder is characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the elongation of very long chain fatty acids-like 4 gene (ELOVL4, 605512.0005);

Prefixed ID : #614457;

Details

Origin ID

614457;

UMLS CUI

C3280856;

Currated CISMeF NLP mapping
- Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) [SNOMED CT concept]
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome [ORDO Disease]
Genes related to phenotype
- Elongation of very long chain fatty acids-like 4 [OMIM gene]
HPO term(s)
- Abnormality of visual evoked potentials [HPO term]
- Aplasia/Hypoplasia involving the central nervous system [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Congenital onset [HPO term]
- Delayed myelination [HPO term]
- Dry skin [HPO term]
- Erythema [HPO term]
- Flexion contracture [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High myopia [HPO term]
- Hyperkeratosis [HPO term]
- Hypertonia [HPO term]
- Ichthyosis [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, profound [HPO term]
- Microcephaly [HPO term]
- Scaling skin [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
ORDO concept(s)
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) [SNOMED CT concept]

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