CORPUS CALLOSUM, AGENESIS OF

General Information (adopted from Orphanet):

Synonyms, Signs: ACC
Number of Symptoms 13
OrphanetNr:
OMIM Id: 217990
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:0000252) Microcephaly 832 / 7739
2
(HPO:0000490) Deeply set eye 131 / 7739
3
(HPO:0002007) Frontal bossing 366 / 7739
4
(HPO:0011220) Prominent forehead 137 / 7739
5
(HPO:0000256) Macrocephaly 298 / 7739
6
(HPO:0000384) Preauricular skin tag 62 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0009473) Joint contracture of the hand 84 / 7739
9
(HPO:0012385) Camptodactyly 113 / 7739
10
(HPO:0001510) Growth delay 295 / 7739
11
(OMIM) Retardation 2 / 7739
12
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers ...
Clinical Description OMIM The most frequent clinical findings in patients with ACC are mental retardation (60%), visual problems (33%), speech delay (29%), seizures (25%), and feeding problems (20%) (Schell-Apacik et al., 2008).

In 2 brothers and a sister, da-Silva ...

Molecular genetics OMIM Dobyns (1996) reviewed the genetics of agenesis of the corpus callosum and noted that ACC has been reported in more than 20 autosomal malformation syndromes. These include Miller-Dieker syndrome (MDLS; 247200), Rubinstein-Taybi syndrome (RSTS; 180849), acrocallosal syndrome (ACLD; ...