|
progressive epilepsy - intellectual disability, Finnish type
|
12391 |
|
|
CLN8 disease, Northern epilepsy variant
|
12391 |
|
|
monocarboxylate transporter 1 hyperinsulinism
|
12396 |
|
|
cortical dysplasia, COMPLEX, with OTHER brain malformations 7
|
12399 |
|
|
cortical dysplasia, COMPLEX, with OTHER brain malformations 7; CDCBM7
|
http://purl.obolibrary.org/obo/MONDO_0012399 |
|
|
cortical dysplasia, Complex, with Other brain malformations 7
|
12399 |
|
|
CLN8 disease, EPMR (subtype)
|
12391 |
|
|
TUBB2B complex cortical dysplasia with other brain malformations
|
12399 |
|
|
brachydactyly, coloboma, and anterior segment dysgenesis
|
12397 |
|
|
cataract 18 autosomal recessive
|
12395 |
|
|
glutamine deficiency, congenital
|
12393 |
|
|
autosomal recessive congenital cataract 2
|
12395 |
|
