Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Preferred Label : Spastic tetraplegia, thin corpus callosum, and progressive microcephaly;

Symbol : SPATCCM;

CISMeF acronym : SPATCCM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 gene (SLC1A4, 600229.0001);

Prefixed ID : #616657;

Détails

Origin ID

616657;

UMLS CUI

C4225254;

CISMeF manual mappings
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Microcephaly [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
ORDO concept(s)
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder) [SNOMED CT concept]
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [ORDO Disease]

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