MCID: MCR357
MIFTS: 11

Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

MalaCards integrated aliases for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome:

Name: Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 60
Halal Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2930954
Orphanet 60 ORPHA2521
UMLS 74 C2930954

Summaries for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

MalaCards based summary : Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome, is also known as halal syndrome. Related phenotypes are microcephaly and bifid uvula

Related Diseases for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Symptoms & Phenotypes for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Human phenotypes related to Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 bifid uvula 60 33 hallmark (90%) Very frequent (99-80%) HP:0000193
3 submucous cleft hard palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000176
4 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
5 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
6 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
7 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
8 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
9 retrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000278
10 specific learning disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001328
11 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
12 cleft palate 60 Very frequent (99-80%)

Drugs & Therapeutics for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Genetic Tests for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Anatomical Context for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Publications for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Variations for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Expression for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Search GEO for disease gene expression data for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome.

Pathways for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

GO Terms for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

Sources for Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome

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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