MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 601420
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:0000204) Cleft upper lip 193 / 7739
2
(HPO:0000202) Oral cleft 120 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000520) Proptosis 192 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0100258) Preaxial polydactyly 39 / 7739
9
(HPO:0001177) Preaxial hand polydactyly 59 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tutuncuoglu et al. (1996) described a 46,XY Turkish male infant with microcephaly, severe hypoplasia of the corpus callosum, exophthalmos, cleft lip and palate, seizures, and psychomotor retardation. His parents were first cousins. A similar case was reported by ...