MCID: CRM012
MIFTS: 13

Cree Mental Retardation Syndrome

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Cree Mental Retardation Syndrome

MalaCards integrated aliases for Cree Mental Retardation Syndrome:

Name: Cree Mental Retardation Syndrome 57 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
possible x-linked recessive inheritance


HPO:

32
cree mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cree Mental Retardation Syndrome

MalaCards based summary : Cree Mental Retardation Syndrome Related phenotypes are hypertelorism and low-set ears

Description from OMIM: 606851

Related Diseases for Cree Mental Retardation Syndrome

Symptoms & Phenotypes for Cree Mental Retardation Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
hypertelorism
triangular face

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
hypersegmented sternum
hypoplastic or missing ribs

Head And Neck Head:
brachycephaly
wide fontanelles

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
rocker-bottom feet

Head And Neck Neck:
wide, webbed neck

Skeletal Hands:
webbed fingers

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
ocular colobomas

Head And Neck Mouth:
micrognathia
cleft soft palate

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum

Neurologic Central Nervous System:
psychomotor retardation, severe

Skeletal Skull:
widely spaced sutures


Clinical features from OMIM:

606851

Human phenotypes related to Cree Mental Retardation Syndrome:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 pectus excavatum 32 HP:0000767
4 ptosis 32 HP:0000508
5 intellectual disability 32 HP:0001249
6 global developmental delay 32 HP:0001263
7 brachycephaly 32 HP:0000248
8 micrognathia 32 HP:0000347
9 cryptorchidism 32 HP:0000028
10 webbed neck 32 HP:0000465
11 hypospadias 32 HP:0000047
12 downslanted palpebral fissures 32 HP:0000494
13 large fontanelles 32 HP:0000239
14 triangular face 32 HP:0000325
15 cutaneous finger syndactyly 32 HP:0010554
16 bifid scrotum 32 HP:0000048
17 rocker bottom foot 32 HP:0001838
18 posteriorly rotated ears 32 HP:0000358
19 coloboma 32 HP:0000589
20 aplasia/hypoplasia of the ribs 32 HP:0006712
21 cleft soft palate 32 HP:0000185

Drugs & Therapeutics for Cree Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Cree Mental Retardation Syndrome

Genetic Tests for Cree Mental Retardation Syndrome

Anatomical Context for Cree Mental Retardation Syndrome

Publications for Cree Mental Retardation Syndrome

Variations for Cree Mental Retardation Syndrome

Expression for Cree Mental Retardation Syndrome

Search GEO for disease gene expression data for Cree Mental Retardation Syndrome.

Pathways for Cree Mental Retardation Syndrome

GO Terms for Cree Mental Retardation Syndrome

Sources for Cree Mental Retardation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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