AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 30
OrphanetNr:
OMIM Id: 613623
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:0000343) Long philtrum 262 / 7739
2
(HPO:0000219) Thin upper lip vermilion 112 / 7739
3
(HPO:0000218) High palate 356 / 7739
4
(HPO:0000260) Wide anterior fontanel 55 / 7739
5
(HPO:0000286) Epicanthus 371 / 7739
6
(HPO:0000463) Anteverted nares 305 / 7739
7
(HPO:0000268) Dolichocephaly 144 / 7739
8
(HPO:0000358) Posteriorly rotated ears 163 / 7739
9
(HPO:0000369) Low-set ears 372 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0000960) Sacral dimple 29 / 7739
12
(HPO:0001622) Premature birth 100 / 7739
13
(HPO:0001562) Oligohydramnios 75 / 7739
14
(HPO:0002020) Gastroesophageal reflux 101 / 7739
15
(HPO:0001511) Intrauterine growth retardation 358 / 7739
16
(HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
17
(HPO:0002092) Pulmonary hypertension 109 / 7739
18
(HPO:0001667) Right ventricular hypertrophy rare [HPO:skoehler] 23 / 7739
19
(HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
20
(HPO:0001004) Lymphedema 62 / 7739
21
(HPO:0010547) Muscle flaccidity 466 / 7739
22
(HPO:0001324) Muscle weakness 859 / 7739
23
(HPO:0001252) Muscular hypotonia 990 / 7739
24
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
26
(OMIM) Lymphedema of the extremities 1 / 7739
27
(HPO:0006799) Basal ganglia cysts 6 / 7739
28
(OMIM) Cheerful personality 1 / 7739
29
(OMIM) Right ventricular dilation (1 patient) 2 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM O'Driscoll et al. (2010) reported 2 patients, related as double first cousins, with a unique combination of developmental delay, agenesis of the corpus callosum, and congenital lymphedema. Both were born by emergency cesarean and had difficulty in the ...