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 58 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
possible x-linked recessive inheritance


HPO:

33
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

Human phenotypes related to Cree Mental Retardation Syndrome:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 pectus excavatum 33 HP:0000767
4 ptosis 33 HP:0000508
5 intellectual disability 33 HP:0001249
6 global developmental delay 33 HP:0001263
7 brachycephaly 33 HP:0000248
8 micrognathia 33 HP:0000347
9 cryptorchidism 33 HP:0000028
10 webbed neck 33 HP:0000465
11 hypospadias 33 HP:0000047
12 downslanted palpebral fissures 33 HP:0000494
13 large fontanelles 33 HP:0000239
14 triangular face 33 HP:0000325
15 cutaneous finger syndactyly 33 HP:0010554
16 bifid scrotum 33 HP:0000048
17 rocker bottom foot 33 HP:0001838
18 posteriorly rotated ears 33 HP:0000358
19 coloboma 33 HP:0000589
20 aplasia/hypoplasia of the ribs 33 HP:0006712
21 cleft soft palate 33 HP:0000185

Symptoms via clinical synopsis from OMIM:

58
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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