Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)

Alias:
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Spatccm
Spastic Quadriplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Tetraplegia, Spastic, Thin Corpus Callosum, and Progressive Microcephaly
Asct1 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly, also known as spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, is related to microcephaly and quadriplegia. An important gene associated with Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly is SLC1A4 (Solute Carrier Family 1 Member 4). Affiliated tissues include brain, and related phenotypes are intellectual disability and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
8
7

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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