01
AP4B1
No data
Diseases
Spastic Paraplegia 52, Autosomal Recessive
spastic paraplegia 52, autosomal recessive
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
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Core Information
- Disease Name
- Spastic Paraplegia 52, Autosomal Recessive
- Standard Disease Name
- spastic paraplegia 52, autosomal recessive
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C537798
- OMIM ID
- No data
- UMLS ID
- C0265373
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:A pattern of abnormalities in infants born to epileptic mothers who were treated during their pregnancies with trimethadione anticonvulsant drugs. The abnormalities include developmental delay, craniofacial dysmorphism (midfacial flattening, V-shaped eyebrows, short nose, synophrys, malformed ears, and strabismus), cardiovascular abnormalities, absent kidney and ureter, omphalocele, meningocele, and other defects.
Related
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