MCID: MNT181
MIFTS: 22

Mental Retardation, Autosomal Recessive 35

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 35

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 35:

Name: Mental Retardation, Autosomal Recessive 35 53 13 69
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome 55
Mrt35 53

Characteristics:

Orphanet epidemiological data:

55
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



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, and has symptoms including malar flattening, hypertelorism and low-set ears. An important gene associated with Mental Retardation, Autosomal Recessive 35 is MRT35 (Mental Retardation, Autosomal Recessive 35).

Description from OMIM: 615162

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 Dominant 19 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 Dominant 27 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

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 10.9

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 35

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
synophrys
downslanting palpebral fissures

Skeletal Hands:
clinodactyly

Head And Neck Mouth:
long philtrum
micrognathia
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 35:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 clinodactyly 31 HP:0030084
5 intellectual disability 31 HP:0001249
6 coarse facial features 31 HP:0000280
7 global developmental delay 31 HP:0001263
8 microtia 31 HP:0008551
9 long philtrum 31 HP:0000343
10 micrognathia 31 HP:0000347
11 thick nasal alae 31 HP:0009928
12 everted lower lip vermilion 31 HP:0000232
13 broad forehead 31 HP:0000337
14 downslanted palpebral fissures 31 HP:0000494
15 downturned corners of mouth 31 HP:0002714
16 thin upper lip vermilion 31 HP:0000219
17 flat occiput 31 HP:0005469
18 high forehead 31 HP:0000348
19 synophrys 31 HP:0000664
20 decreased body weight 31 HP:0004325
21 hypoplasia of the ulna 31 HP:0003022
22 wide nose 31 HP:0000445
23 generalized hypotonia 31 HP:0001290
24 hirsutism 31 HP:0001007

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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