MCID: SVR086
MIFTS: 9

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 59

Characteristics:

Orphanet epidemiological data:

59
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA94066

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
5 highly arched eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002553
6 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
7 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
8 ectopic anus 59 32 hallmark (90%) Very frequent (99-80%) HP:0004397
9 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
10 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
11 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
12 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
13 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
14 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
15 aplasia/hypoplasia of the distal phalanges of the toes 59 32 frequent (33%) Frequent (79-30%) HP:0010185
16 aplasia/hypoplasia of the distal phalanges of the hand 59 32 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....