Ophthalmoplegia - intellectual deficit - lingua scrotalis

General Information (adopted from Orphanet):

Synonyms, Signs: Levic-Stefanovic-Nikolic syndrome
Number of Symptoms 12
OrphanetNr: 2743
OMIM Id: 165150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy Frequent [Orphanet] 146 / 7739
2
 (HPO:0000221) Furrowed tongue Very frequent [Orphanet] 24 / 7739
3
 (HPO:0007650) Progressive ophthalmoplegia 2 / 7739
4
 (HPO:0000512) Abnormal electroretinogram Occasional [Orphanet] 61 / 7739
5
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
6
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
7
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
8
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: