CREE MENTAL RETARDATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr:
OMIM Id: 606851
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000047) Hypospadias 250 / 7739
3
(HPO:0000048) Bifid scrotum 36 / 7739
4
(HPO:0000347) Micrognathia 426 / 7739
5
(HPO:0000239) Large fontanelles 135 / 7739
6
(HPO:0000248) Brachycephaly 222 / 7739
7
(HPO:0000325) Triangular face 91 / 7739
8
(HPO:0000316) Hypertelorism 644 / 7739
9
(HPO:0000185) Cleft soft palate 18 / 7739
10
(HPO:0000465) Webbed neck 81 / 7739
11
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
12
(HPO:0000508) Ptosis 459 / 7739
13
(HPO:0000589) Coloboma 47 / 7739
14
(HPO:0000358) Posteriorly rotated ears 163 / 7739
15
(HPO:0000369) Low-set ears 372 / 7739
16
(HPO:0001249) Intellectual disability 1089 / 7739
17
(HPO:0001263) Global developmental delay 853 / 7739
18
(HPO:0006712) Aplasia/Hypoplasia of the ribs 1 / 7739
19
(HPO:0001838) Rocker bottom foot 85 / 7739
20
(HPO:0009700) Finger symphalangism 55 / 7739
21
(HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
22
(HPO:0000767) Pectus excavatum 244 / 7739
23
(HPO:0010554) Cutaneous finger syndactyly 39 / 7739
24
(OMIM) Wide, webbed neck 1 / 7739
25
(OMIM) Hypersegmented sternum 1 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(OMIM) Widely spaced sutures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Khalifa et al. (2002) described 3 Canadian brothers of First Nation Canadian (Cree) origin with a previously undescribed pattern of malformations including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly ...