HOLOPROSENCEPHALY 11

General Information (adopted from Orphanet):

Synonyms, Signs: HPE11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614226
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000601) Hypotelorism 21802063 IBIS 83 / 7739
2
 (HPO:0000664) Synophrys 21802063 IBIS 112 / 7739
3
 (HPO:0000252) Microcephaly 21802063 IBIS 832 / 7739
4
 (HPO:0001263) Global developmental delay 21802063 IBIS 853 / 7739
5
 (HPO:0001360) Holoprosencephaly 21802063 IBIS 29 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (HPO:0001274) Agenesis of corpus callosum 21802063 IBIS 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bae et al. (2011) reported 4 unrelated patients with HPE11. One patient had agenesis of the corpus callosum, hypotelorism, growth hormone deficiency, global developmental delay, and thick eyebrows with synophrys. Another had agenesis of the corpus callosum, alobar ...
Molecular genetics OMIM In 4 unrelated individuals with holoprosencephaly spectrum disorders, Bae et al. (2011) identified 4 different putatively pathogenic heterozygous mutations in the CDON gene (608707.0001-608707.0004). One of the patients had a confirmed de novo mutation. The patients were identified ...