MCID: MNT030
MIFTS: 18

Mental Retardation Syndrome, Belgian Type

Categories: Endocrine diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Mental Retardation Syndrome, Belgian Type

MalaCards integrated aliases for Mental Retardation Syndrome, Belgian Type:

Name: Mental Retardation Syndrome, Belgian Type 56
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 52 58
Belgian Type Mental Retardation Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
mental retardation syndrome, belgian type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation Syndrome, Belgian Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3044 Definition A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism , eunuchoid habitus, diabetes mellitus type 1, and epilepsy . There have been no further descriptions in the literature since 1990. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mental Retardation Syndrome, Belgian Type, is also known as intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome. Affiliated tissues include eye and breast, and related phenotypes are global developmental delay and mandibular prognathia

More information from OMIM: 249599

Related Diseases for Mental Retardation Syndrome, Belgian Type

Symptoms & Phenotypes for Mental Retardation Syndrome, Belgian Type

Human phenotypes related to Mental Retardation Syndrome, Belgian Type:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
3 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
4 type i diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100651
5 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
6 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
7 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
8 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
9 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
10 elevated circulating follicle stimulating hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008232
11 elevated circulating luteinizing hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011969
12 sparse pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002225
13 cleft ala nasi 58 31 hallmark (90%) Very frequent (99-80%) HP:0003191
14 eunuchoid habitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003782
15 narrow nasal base 58 31 hallmark (90%) Very frequent (99-80%) HP:0012809
16 generalized tonic-clonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002069
17 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
18 breast aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100783
19 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
20 febrile seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002373
21 pelvic girdle muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008988
22 seizures 31 HP:0001250
23 diabetes mellitus 31 HP:0000819
24 abnormal facial shape 58 Very frequent (99-80%)
25 hypergonadotropic hypogonadism 31 HP:0000815
26 coloboma 31 HP:0000589

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
moderate mental retardation

H E E N T:
long face
deep-set eyes
craniofacial dysmorphism
narrow-based broad nose
coloboma of alae nasi
more
G U:
hypergonadotrophic hypogonadism

Metabolic:
diabetes mellitus

Skel:
eunuchoid habitus

Clinical features from OMIM:

249599

Drugs & Therapeutics for Mental Retardation Syndrome, Belgian Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation Syndrome, Belgian Type

Genetic Tests for Mental Retardation Syndrome, Belgian Type

Anatomical Context for Mental Retardation Syndrome, Belgian Type

MalaCards organs/tissues related to Mental Retardation Syndrome, Belgian Type:

40
Eye, Breast

Publications for Mental Retardation Syndrome, Belgian Type

Articles related to Mental Retardation Syndrome, Belgian Type:

# Title Authors PMID Year
1
Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome. 56
2107046 1990

Variations for Mental Retardation Syndrome, Belgian Type

Expression for Mental Retardation Syndrome, Belgian Type

Search GEO for disease gene expression data for Mental Retardation Syndrome, Belgian Type.

Pathways for Mental Retardation Syndrome, Belgian Type

GO Terms for Mental Retardation Syndrome, Belgian Type

Sources for Mental Retardation Syndrome, Belgian Type

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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