MCID: SYM015
MIFTS: 12

Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Summaries for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

MalaCards based summary : Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers and has symptoms including everted lower lip vermilion, hypertelorism and wide nose. Affiliated tissues include heart.

Related Diseases for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Symptoms & Phenotypes for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Human phenotypes related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000232
2 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 wide nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0000445
4 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
5 anodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000674
6 oligodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000677
7 psychosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000709
8 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
9 pectus carinatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000768
10 large hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0001176
11 tapered finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0001182
12 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
13 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
14 obesity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001513
15 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
16 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
17 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
18 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
19 bipolar affective disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007302
20 depression 56 Occasional (29-5%)
21 malformation of the heart and great vessels 56 Occasional (29-5%)
22 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

Drugs & Therapeutics for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Search Clinical Trials , NIH Clinical Center for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Genetic Tests for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Anatomical Context for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

MalaCards organs/tissues related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:

39
Heart

Publications for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Variations for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Expression for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Search GEO for disease gene expression data for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers.

Pathways for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

GO Terms for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Sources for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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