Holoprosencephaly - caudal dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 2165
OMIM Id:
ICD-10: Q04.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000078) Abnormality of the genital system Frequent [Orphanet] 33 / 7739
2
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
3
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0000161) Median cleft lip Frequent [Orphanet] 27 / 7739
8
 (HPO:0009914) Cyclopia Frequent [Orphanet] 11 / 7739
9
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
10
 (HPO:0000924) Abnormality of the skeletal system Frequent [Orphanet] 114 / 7739
11
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
12
 (HPO:0009486) Radial deviation of the hand Frequent [Orphanet] 13 / 7739
13
 (HPO:0010305) Absence of the sacrum Frequent [Orphanet] 17 / 7739
14
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
15
 (HPO:0100659) Abnormality of the cerebral vasculature Frequent [Orphanet] 25 / 7739
16
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
17
 (HPO:0010662) Abnormality of the diencephalon Frequent [Orphanet] 6 / 7739
18
 (HPO:0012443) Abnormality of brain morphology Frequent [Orphanet] 45 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: