MRT35
MCID: MNT181
MIFTS: 19

Mental Retardation, Autosomal Recessive 35 (MRT35)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal 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 57 13 71
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome 58
Mrt35 57

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®:

57 (Updated 05-Mar-2021)
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, is also known as short ulna-dysmorphism-hypotonia-intellectual disability syndrome. An important gene associated with Mental Retardation, Autosomal Recessive 35 is MRT35 (Mental Retardation, Autosomal Recessive 35). Related phenotypes are global developmental delay and hypertelorism

More information from OMIM: 615162 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 35

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 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 Recessive 48
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 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 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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 35

Human phenotypes related to Mental Retardation, Autosomal Recessive 35:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
hypotonia

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

Skin Nails Hair Hair:
synophrys
hypertrichosis

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 Eyes:
hypertelorism
synophrys
downslanting palpebral fissures

Head And Neck Ears:
low-set ears
small ears

Skeletal Hands:
clinodactyly

Head And Neck Face:
malar hypoplasia
coarse face

Skeletal Limbs:
short ulna

Clinical features from OMIM®:

615162 (Updated 05-Mar-2021)

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. 57
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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