MCID: INT232
MIFTS: 19

Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability - Hypoplastic Corpus Callosum -...

MalaCards integrated aliases for Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

Name: Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 54
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome 54 60
Da Silva Syndrome 54 60

Characteristics:

Orphanet epidemiological data:

60
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood,infantile;

HPO:

33
intellectual disability - hypoplastic corpus callosum - preauricular tag:
Clinical modifier death in infancy


Classifications:



Summaries for Intellectual Disability - Hypoplastic Corpus Callosum -...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1495Disease definitionIntellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag, also known as intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome, is related to richieri costa da silva syndrome and myotonia with skeletal abnormalities and mental retardation. Affiliated tissues include skin and heart, and related phenotypes are delayed skeletal maturation and microcephaly

Related Diseases for Intellectual Disability - Hypoplastic Corpus Callosum -...

Diseases related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 richieri costa da silva syndrome 12.7
2 myotonia with skeletal abnormalities and mental retardation 11.5
3 acrocallosal syndrome 11.4

Symptoms & Phenotypes for Intellectual Disability - Hypoplastic Corpus Callosum -...

Human phenotypes related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
3 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
4 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
5 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
6 ventriculomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002119
7 recurrent pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0006532
8 preauricular skin tag 60 33 hallmark (90%) Very frequent (99-80%) HP:0000384
9 hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002079
10 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
11 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
12 abnormal palate morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000174
13 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
14 talipes 60 33 frequent (33%) Frequent (79-30%) HP:0001883
15 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
16 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
17 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
18 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
19 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
20 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
21 abnormality of the voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001608
22 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
23 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
24 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
25 malformation of the heart and great vessels 60 Occasional (29-5%)
26 death in infancy 60 Frequent (79-30%)
27 growth delay 60 Very frequent (99-80%)
28 abnormality of immune system physiology 60 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability - Hypoplastic Corpus Callosum -...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag

Genetic Tests for Intellectual Disability - Hypoplastic Corpus Callosum -...

Anatomical Context for Intellectual Disability - Hypoplastic Corpus Callosum -...

MalaCards organs/tissues related to Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag:

42
Skin, Heart

Publications for Intellectual Disability - Hypoplastic Corpus Callosum -...

Variations for Intellectual Disability - Hypoplastic Corpus Callosum -...

Expression for Intellectual Disability - Hypoplastic Corpus Callosum -...

Search GEO for disease gene expression data for Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag.

Pathways for Intellectual Disability - Hypoplastic Corpus Callosum -...

GO Terms for Intellectual Disability - Hypoplastic Corpus Callosum -...

Sources for Intellectual Disability - Hypoplastic Corpus Callosum -...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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