MCID: INT305
MIFTS: 12

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


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 delayed skeletal maturation

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 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
3 narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0000189
4 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
5 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
6 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
10 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
11 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
12 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
13 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
14 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
15 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
16 leukoencephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002352
17 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
18 overlapping toe 58 31 frequent (33%) Frequent (79-30%) HP:0001845
19 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
20 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
21 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
22 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
23 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
24 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331

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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