MCID: CLF038
MIFTS: 12

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 59
Lowry-Yong Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cleft lip/palate-deafness-sacral lipoma syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA2003
ICD10 via Orphanet 34 Q87.8

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

MalaCards based summary : Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome, is also known as lowry-yong syndrome. Related phenotypes are ataxia and hip dislocation

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
3 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
4 meningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002435
5 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
6 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
7 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
8 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
9 severe sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008625
10 bilateral cleft lip and palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002744
11 absent nasal septal cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0005273
12 sacral lipoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012033
13 non-midline cleft lip 59 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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