Gemignani syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 2074
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
2
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
4
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
5
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
6
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
7
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
8
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
11
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
12
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
13
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
14
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: