Brachydactyly - nystagmus - cerebellar ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: Biemond syndrome
Number of Symptoms 20
OrphanetNr: 1246
OMIM Id: 113400
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
3
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
4
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
5
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
6
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
7
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
12
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
13
 (HPO:0010743) Short metatarsal 56 / 7739
14
 (HPO:0010049) Short metacarpal 99 / 7739
15
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
16
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
17
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
18
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
20
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: