MCID: SVR086
MIFTS: 11

Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

MalaCards integrated aliases for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia:

Name: Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 58

Characteristics:

Orphanet epidemiological data:

58
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

MalaCards based summary : Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia Related phenotypes are hypertelorism and seizures

Related Diseases for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Symptoms & Phenotypes for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Human phenotypes related to Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
6 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
7 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
8 ectopic anus 58 31 hallmark (90%) Very frequent (99-80%) HP:0004397
9 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
10 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
11 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
12 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
13 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
14 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
15 aplasia/hypoplasia of the distal phalanges of the toes 58 31 frequent (33%) Frequent (79-30%) HP:0010185
16 aplasia/hypoplasia of the distal phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009835

Drugs & Therapeutics for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Search Clinical Trials , NIH Clinical Center for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia

Genetic Tests for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Anatomical Context for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Publications for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Variations for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Expression for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Search GEO for disease gene expression data for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia.

Pathways for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

GO Terms for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

Sources for Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal...

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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