NEU-LAXOVA SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr:
OMIM Id: 616038
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate 349 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000470) Short neck 345 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000340) Sloping forehead 86 / 7739
8
 (HPO:0000457) Depressed nasal ridge 85 / 7739
9
 (HPO:0000369) Low-set ears 372 / 7739
10
 (HPO:0000377) Abnormality of the pinna 111 / 7739
11
 (HPO:0002650) Scoliosis 705 / 7739
12
 (HPO:0001838) Rocker bottom foot 85 / 7739
13
 (HPO:0001558) Decreased fetal movement 74 / 7739
14
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
15
 (HPO:0008064) Ichthyosis 108 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: