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 60
Lowry-Yong Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cleft lip/palate-deafness-sacral lipoma syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.8
Orphanet 60 ORPHA2003

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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
3 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
4 meningocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0002435
5 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
6 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
7 facial asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0000324
8 lower limb asymmetry 60 33 hallmark (90%) Very frequent (99-80%) HP:0100559
9 severe sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008625
10 bilateral cleft lip and palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002744
11 absent nasal septal cartilage 60 33 hallmark (90%) Very frequent (99-80%) HP:0005273
12 sacral lipoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0012033
13 non-midline cleft lip 60 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
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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