MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5

General Information (adopted from Orphanet):

Synonyms, Signs: MRT5
Number of Symptoms 53
OrphanetNr:
OMIM Id: 611091
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000448) Prominent nose 56 / 7739
2
(HPO:0000581) Blepharophimosis rare [HPO:skoehler] 197 / 7739
3
(HPO:0000275) Narrow face 76 / 7739
4
(HPO:0000574) Thick eyebrow 96 / 7739
5
(HPO:0000664) Synophrys 112 / 7739
6
(HPO:0000506) Telecanthus rare [HPO:skoehler] 156 / 7739
7
(HPO:0000319) Smooth philtrum 72 / 7739
8
(HPO:0000601) Hypotelorism 83 / 7739
9
(HPO:0000276) Long face 109 / 7739
10
(HPO:0000252) Microcephaly 832 / 7739
11
(HPO:0000431) Wide nasal bridge rare [HPO:skoehler] 290 / 7739
12
(HPO:0000331) Short chin 33 / 7739
13
(HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
14
(HPO:0000426) Prominent nasal bridge rare [HPO:skoehler] 121 / 7739
15
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
16
(HPO:0000322) Short philtrum 130 / 7739
17
(HPO:0000486) Strabismus 576 / 7739
18
(HPO:0001347) Hyperreflexia 363 / 7739
19
(HPO:0001263) Global developmental delay 853 / 7739
20
(HPO:0000750) Delayed speech and language development 197 / 7739
21
(HPO:0001257) Spasticity 251 / 7739
22
(HPO:0001327) Photomyoclonic seizures 125 / 7739
23
(HPO:0001276) Hypertonia 317 / 7739
24
(HPO:0001260) Dysarthria 329 / 7739
25
(HPO:0001249) Intellectual disability 1089 / 7739
26
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
27
(HPO:0001765) Hammertoe 63 / 7739
28
(HPO:0001771) Achilles tendon contracture rare [HPO:skoehler] 27 / 7739
29
(HPO:0001838) Rocker bottom foot 85 / 7739
30
(HPO:0001763) Pes planus 176 / 7739
31
(HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
32
(HPO:0001822) Hallux valgus 70 / 7739
33
(HPO:0008897) Postnatal growth retardation 113 / 7739
34
(HPO:0004322) Short stature 1232 / 7739
35
(HPO:0001518) Small for gestational age 107 / 7739
36
(HPO:0000976) Eczematoid dermatitis 22 / 7739
37
(HPO:0001047) Atopic dermatitis 20 / 7739
38
(HPO:0001051) Seborrheic dermatitis 25 / 7739
39
(HPO:0008070) Sparse hair rare [HPO:skoehler] 94 / 7739
40
(HPO:0000964) Eczema rare [HPO:skoehler] 81 / 7739
41
(HPO:0003236) Elevated serum creatine phosphokinase rare [HPO:skoehler] 214 / 7739
42
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
43
(OMIM) Full upper lip 2 / 7739
44
(OMIM) Broad gait 1 / 7739
45
(OMIM) [DEL]Autistic features 43 / 7739
46
(OMIM) Downturned upper lip 1 / 7739
47
(OMIM) Equivocal plantar responses 1 / 7739
48
(OMIM) Mental retardation, moderate to severe 20 / 7739
49
(OMIM) Distal myopathy 2 / 7739
50
(OMIM) Limited speech 1 / 7739
51
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
52
(OMIM) Long columella 3 / 7739
53
(OMIM) Increased serum lactate dehydrogenase (LDH) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Najmabadi et al. (2007) reported a large consanguineous Iranian family in which 3 individuals had nonsyndromic moderate to severe mental retardation. Abbasi-Moheb et al. (2012) reported follow-up of the families reported by Najmabadi et al. (2007) and Kuss ...
Molecular genetics OMIM By Sanger sequencing of a candidate region in a consanguineous family with autosomal recessive mental retardation-5 mapping to chromosome 5p15, Abbasi-Moheb et al. (2012) identified a homozygous truncating mutation in the NSUN2 gene (Q227X; 610916.0001). Sequence analysis of ...