MCID: MCR357
MIFTS: 10

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 59
Halal Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2930954
Orphanet 59 ORPHA2521
UMLS 72 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:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 bifid uvula 59 32 hallmark (90%) Very frequent (99-80%) HP:0000193
3 submucous cleft hard palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000176
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
8 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
9 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
10 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
11 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
12 cleft palate 59 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
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
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