LISSENCEPHALY 6 WITH MICROCEPHALY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 616212
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:0000252) Microcephaly 832 / 7739
3
 (HPO:0002509) Limb hypertonia rare [HPO:skoehler] 13 / 7739
4
 (HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
5
 (HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
 (HPO:0100543) Cognitive impairment 230 / 7739
9
 (HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
10
 (HPO:0002119) Ventriculomegaly 253 / 7739
11
 (HPO:0009879) Cortical gyral simplification 24 / 7739
12
 (HPO:0002126) Polymicrogyria 64 / 7739
13
 (HPO:0001339) Lissencephaly 30 / 7739
14
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
15
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
16
 (HPO:0001302) Pachygyria 60 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: