CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 218650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000110) Renal dysplasia 44 / 7739
2
 (HPO:0000202) Oral cleft 120 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000444) Convex nasal ridge 87 / 7739
5
 (HPO:0000337) Broad forehead 116 / 7739
6
 (HPO:0001363) Craniosynostosis 132 / 7739
7
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
8
 (HPO:0000611) Choroid coloboma 12 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0009821) Forearm undergrowth 8 / 7739
12
 (HPO:0009816) Lower limb undergrowth 6 / 7739
13
 (HPO:0000958) Dry skin 152 / 7739
14
 (OMIM) Slightly shortened forearms and legs 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Flattened occiput 3 / 7739
17
 (OMIM) Bat ears 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: