MRT35
MCID: MNT181
MIFTS: 20

Mental Retardation, Autosomal Recessive 35 (MRT35)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 35

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 35:

Name: Mental Retardation, Autosomal Recessive 35 56 13 71
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome 58
Mrt35 56

Characteristics:

Orphanet epidemiological data:

58
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
mental retardation, autosomal recessive 35:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Recessive 35

MalaCards based summary : Mental Retardation, Autosomal Recessive 35, also known as short ulna-dysmorphism-hypotonia-intellectual disability syndrome, is related to autosomal recessive non-syndromic intellectual disability. An important gene associated with Mental Retardation, Autosomal Recessive 35 is MRT35 (Mental Retardation, Autosomal Recessive 35). Related phenotypes are malar flattening and hypertelorism

More information from OMIM: 615162 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 35

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Recessive 35 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic intellectual disability 11.3

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 35

Human phenotypes related to Mental Retardation, Autosomal Recessive 35:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
4 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
5 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
8 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
9 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
10 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
11 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
12 thick nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0009928
13 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
14 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
15 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
16 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
17 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
18 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
19 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
20 hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0001007
21 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
22 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
23 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
24 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
25 intellectual disability 31 HP:0001249
26 coarse facial features 31 HP:0000280
27 generalized hypotonia 31 HP:0001290
28 abnormality of the skeletal system 58 Frequent (79-30%)
29 downturned corners of mouth 31 HP:0002714
30 high forehead 31 HP:0000348

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
synophrys
downslanting palpebral fissures

Skeletal Hands:
clinodactyly

Head And Neck Mouth:
micrognathia
long philtrum
thin upper lip
downturned corners of the mouth
everted lower lip

Head And Neck Nose:
broad nose
thick alae nasi

Growth Weight:
low weight

Head And Neck Head:
tall, broad forehead
flat, broad occiput

Head And Neck Ears:
low-set ears
small ears

Neurologic Central Nervous System:
global developmental delay
hypotonia

Skin Nails Hair Hair:
synophrys
hypertrichosis

Head And Neck Face:
malar hypoplasia
coarse face

Skeletal Limbs:
short ulna

Clinical features from OMIM:

615162

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 35

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 35

Genetic Tests for Mental Retardation, Autosomal Recessive 35

Anatomical Context for Mental Retardation, Autosomal Recessive 35

Publications for Mental Retardation, Autosomal Recessive 35

Articles related to Mental Retardation, Autosomal Recessive 35:

# Title Authors PMID Year
1
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. 56
20950399 2011

Variations for Mental Retardation, Autosomal Recessive 35

Expression for Mental Retardation, Autosomal Recessive 35

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 35.

Pathways for Mental Retardation, Autosomal Recessive 35

GO Terms for Mental Retardation, Autosomal Recessive 35

Sources for Mental Retardation, Autosomal Recessive 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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