MCID: CLF038
MIFTS: 11

Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

MalaCards integrated aliases for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome:

Name: Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 58
Cleft Lip/palate-Hearing Loss-Sacral Lipoma Syndrome 58
Lowry-Yong Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cleft lip/palate-deafness-sacral lipoma syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA2003

Summaries for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

MalaCards based summary : Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome, is also known as cleft lip/palate-hearing loss-sacral lipoma syndrome. Related phenotypes are ataxia and meningocele

Related Diseases for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Symptoms & Phenotypes for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Human phenotypes related to Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 meningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002435
3 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
4 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
5 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
6 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
7 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
8 lower limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100559
9 severe sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008625
10 bilateral cleft lip and palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002744
11 absent nasal septal cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0005273
12 sacral lipoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0012033
13 non-midline cleft lip 58 Very frequent (99-80%)

Drugs & Therapeutics for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Genetic Tests for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Anatomical Context for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Publications for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Variations for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Expression for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Search GEO for disease gene expression data for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome.

Pathways for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

GO Terms for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

Sources for Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome

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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