Disorder of sex development - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: VERLOES SYNDROME
Pseudohermaphroditism - intellectual deficit
Verloes-Gillerot-Fryns syndrome
Number of Symptoms 38
OrphanetNr: 2983
OMIM Id: 600122
ICD-10: Q56.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndrome with disorder of sex development of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
2
 (HPO:0000037) Male pseudohermaphroditism 25 / 7739
3
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
4
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
5
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
6
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
7
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
8
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
9
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
10
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
11
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
12
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
13
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
14
 (HPO:0000280) Coarse facial features 189 / 7739
15
 (HPO:0007633) Bilateral microphthalmos 13 / 7739
16
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
17
 (HPO:0007851) Temporal displacement of maculae 1 / 7739
18
 (HPO:0000611) Choroid coloboma 12 / 7739
19
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
20
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
21
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
22
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0001344) Absent speech 57 / 7739
25
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
26
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
27
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
28
 (HPO:0005857) Cervical spina bifida 1 / 7739
29
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
30
 (HPO:0003298) Spina bifida occulta Very frequent [Orphanet] 67 / 7739
31
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
32
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
33
 (HPO:0001513) Obesity 172 / 7739
34
 (HPO:0008897) Postnatal growth retardation 113 / 7739
35
 (OMIM) Small eyes 3 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
37
 (OMIM) Lateral neck webbing 1 / 7739
38
 (OMIM) Sexual ambiguity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: