MCID: MCR042
MIFTS: 2

Microbrachycephaly Ptosis Cleft Lip

Categories: Rare diseases

Aliases & Classifications for Microbrachycephaly Ptosis Cleft Lip

MalaCards integrated aliases for Microbrachycephaly Ptosis Cleft Lip:

Name: Microbrachycephaly Ptosis Cleft Lip 52

Classifications:



Summaries for Microbrachycephaly Ptosis Cleft Lip

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2511 Definition Microbrachycephaly-ptosis -cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Microbrachycephaly Ptosis Cleft Lip is related to richieri-costa/guion-almeida syndrome.

Related Diseases for Microbrachycephaly Ptosis Cleft Lip

Diseases related to Microbrachycephaly Ptosis Cleft Lip via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 richieri-costa/guion-almeida syndrome 11.7

Symptoms & Phenotypes for Microbrachycephaly Ptosis Cleft Lip

Drugs & Therapeutics for Microbrachycephaly Ptosis Cleft Lip

Search Clinical Trials , NIH Clinical Center for Microbrachycephaly Ptosis Cleft Lip

Genetic Tests for Microbrachycephaly Ptosis Cleft Lip

Anatomical Context for Microbrachycephaly Ptosis Cleft Lip

Publications for Microbrachycephaly Ptosis Cleft Lip

Variations for Microbrachycephaly Ptosis Cleft Lip

Expression for Microbrachycephaly Ptosis Cleft Lip

Search GEO for disease gene expression data for Microbrachycephaly Ptosis Cleft Lip.

Pathways for Microbrachycephaly Ptosis Cleft Lip

GO Terms for Microbrachycephaly Ptosis Cleft Lip

Sources for Microbrachycephaly Ptosis Cleft Lip

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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