WARBURG MICRO SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: MICRO SYNDROME 2
WARBM2
Number of Symptoms 28
OrphanetNr:
OMIM Id: 614225
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:0000054) Micropenis 257 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
4
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
5
 (HPO:0000426) Prominent nasal bridge 121 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000248) Brachycephaly 222 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000252) Microcephaly 832 / 7739
10
 (HPO:0000294) Low anterior hairline 52 / 7739
11
 (HPO:0005484) Postnatal microcephaly 32 / 7739
12
 (HPO:0000519) Congenital cataract 73 / 7739
13
 (HPO:0000648) Optic atrophy 238 / 7739
14
 (HPO:0000518) Cataract 454 / 7739
15
 (HPO:0000482) Microcornea 102 / 7739
16
 (HPO:0007965) Undetectable visual evoked potentials 3 / 7739
17
 (HPO:0010722) Asymmetry of the ears 3 / 7739
18
 (HPO:0000400) Macrotia 108 / 7739
19
 (HPO:0011344) Severe global developmental delay 46 / 7739
20
 (HPO:0010864) Intellectual disability, severe 120 / 7739
21
 (HPO:0001845) Overlapping toe 18 / 7739
22
 (HPO:0001371) Flexion contracture 220 / 7739
23
 (HPO:0008897) Postnatal growth retardation 113 / 7739
24
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
25
 (HPO:0002126) Polymicrogyria 64 / 7739
26
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0002283) Global brain atrophy 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Borck et al. (2011) reported a girl from a consanguineous Turkish family with Warburg Micro syndrome who presented with congenital cataracts, microphthalmia, absent visual evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.
Molecular genetics OMIM In a girl from a consanguineous Turkish family with Warburg Micro syndrome, Borck et al. (2011) identified homozygosity for a small in-frame deletion in the RAB3GAP2 gene (609275.0002). The parents were heterozygous carriers of the mutation, which was ...