Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandQuadriplegia (D011782)
..Starting node
..expandMicrocephaly with spastic quadriplegia (C537546)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandMicrocephaly with spastic quadriplegia (C537546)
..expandOpticocochleodentate Degeneration (C563002)
..expandSpastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7205
Name:Microcephaly with spastic quadriplegia
Definition:
Alternative IDs:
ParentIDs:MESH:D008831|MESH:D011782
TreeNumbers:C05.660.207.620/C537546 |C10.500.507.400.500/C537546 |C10.597.622.760/C537546 |C16.131.621.207.620/C537546 |C16.131.666.507.400.500/C537546 |C23.888.592.636.786/C537546
Synonyms:Recessive microcephaly with spastic quadriplegia
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537546
MeSH: C537546
OMIM: 251280;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0002123Generalized myoclonic seizure
4 HP:0001263Global developmental delay
5 HP:0000252Microcephaly
6 HP:0005484Secondary microcephaly
7 HP:0002510Spastic tetraplegia
Disease Causing ClinVar Variants