MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615760
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000340) Sloping forehead 86 / 7739
2
 (HPO:0000341) Narrow forehead 96 / 7739
3
 (HPO:0000286) Epicanthus 371 / 7739
4
 (HPO:0000253) Progressive microcephaly 37 / 7739
5
 (HPO:0000601) Hypotelorism 83 / 7739
6
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
7
 (HPO:0000369) Low-set ears 372 / 7739
8
 (HPO:0002133) Status epilepticus 59 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
11
 (HPO:0001252) Muscular hypotonia 990 / 7739
12
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
13
 (HPO:0002119) Ventriculomegaly 253 / 7739
14
 (HPO:0006855) Cerebellar vermis atrophy 8 / 7739
15
 (HPO:0003429) CNS hypomyelination 21 / 7739
16
 (HPO:0009879) Cortical gyral simplification rare [HPO:skoehler] 24 / 7739
17
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: