GOMBO SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH RETARDATION, OCULAR ABNORMALITIES, MICROCEPHALY, BRACHYDACTYLY, AND OLIGOPHRENIA
Number of Symptoms 13
OrphanetNr:
OMIM Id: 233270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0010864) Intellectual disability, severe 120 / 7739
4
(HPO:0006887) Intellectual disability, progressive 68 / 7739
5
(HPO:0000823) Delayed puberty 65 / 7739
6
(HPO:0009466) Radial deviation of finger 101 / 7739
7
(HPO:0001156) Brachydactyly syndrome 180 / 7739
8
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
9
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(MedDRA:10072883) Brachydactyly 153 / 7739
12
(HPO:0030084) Clinodactyly 90 / 7739
13
(MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Verloes et al. (1989) reported a brother and sister and probably a third sib with a seemingly characteristic and previously undescribed syndrome. Microcephaly was severe and there was also microphthalmia, brachydactyly with clinodactyly 5, delayed growth in puberty, ...