Ptosis - upper ocular movement limitation - absence of lacrimal punctum

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 228396
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Excretory apparatus of the lacrimal system anomaly
 -Rare eye disease
 -Rare genetic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
2
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
3
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
4
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
5
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
6
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
7
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
8
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
9
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
10
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
11
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
12
 (HPO:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
13
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
14
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
15
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
16
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
17
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
18
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: