MCID: INT305
MIFTS: 8

Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

MalaCards integrated aliases for Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome:

Name: Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA457365

Summaries for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

MalaCards based summary : Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome Affiliated tissues include eye, and related phenotypes are intellectual disability and ptosis

Related Diseases for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Symptoms & Phenotypes for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Human phenotypes related to Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome:

58 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 Frequent (79-30%)
2 ptosis 58 Occasional (29-5%)
3 tremor 58 Occasional (29-5%)
4 muscle weakness 58 Frequent (79-30%)
5 delayed skeletal maturation 58 Frequent (79-30%)
6 narrow palate 58 Frequent (79-30%)
7 carious teeth 58 Frequent (79-30%)
8 delayed speech and language development 58 Frequent (79-30%)
9 pes planus 58 Frequent (79-30%)
10 short stature 58 Frequent (79-30%)
11 downslanted palpebral fissures 58 Frequent (79-30%)
12 broad columella 58 Frequent (79-30%)
13 highly arched eyebrow 58 Frequent (79-30%)
14 thick lower lip vermilion 58 Occasional (29-5%)
15 narrow mouth 58 Frequent (79-30%)
16 specific learning disability 58 Frequent (79-30%)
17 emg: myopathic abnormalities 58 Frequent (79-30%)
18 ophthalmoplegia 58 Occasional (29-5%)
19 prominent nasal bridge 58 Frequent (79-30%)
20 deeply set eye 58 Frequent (79-30%)
21 short chin 58 Occasional (29-5%)
22 overlapping toe 58 Frequent (79-30%)
23 blue sclerae 58 Occasional (29-5%)
24 leukoencephalopathy 58 Frequent (79-30%)

Drugs & Therapeutics for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome

Genetic Tests for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Anatomical Context for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

MalaCards organs/tissues related to Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome:

40
Eye

Publications for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Variations for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Expression for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Search GEO for disease gene expression data for Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome.

Pathways for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

GO Terms for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

Sources for Intellectual Disability-Muscle Weakness-Short Stature-Facial...

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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