Alopecia - intellectual deficit - hypergonadotropic hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: Devriendt-Vandenberghe-Fryns syndrome
Number of Symptoms 18
OrphanetNr: 1014
OMIM Id: 601217
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size 105 / 7739
2
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
3
 (HPO:0000054) Micropenis 257 / 7739
4
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
 (HPO:0001256) Intellectual disability, mild 141 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
8
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
9
 (HPO:0002224) Woolly hair 26 / 7739
10
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
11
 (OMIM) Tonic-clonic convulsions 1 / 7739
12
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
13
 (OMIM) Damaged or absent hair shaft cuticula by EM (central trichoptilosis) 1 / 7739
14
 (OMIM) Alopecia, congenital, total 2 / 7739
15
 (OMIM) Absent scalp hair, eyelashes, and eyebrows 1 / 7739
16
 (OMIM) Normal childhood EEG 1 / 7739
17
 (OMIM) Sparse and woolly scalp hair at adolescence 1 / 7739
18
 (OMIM) Elevated serum FSH 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: