Symptomatic form of Coffin-Lowry syndrome in female carriers

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 276630
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
2
(HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
3
(HPO:0000232) Everted lower lip vermilion Occasional [Orphanet] 90 / 7739
4
(HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
5
(HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
6
(HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
7
(HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
8
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
9
(HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
10
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
11
(HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
12
(HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
13
(HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
14
(HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
15
(HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
16
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
17
(HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
18
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
19
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
20
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: