|
familial, 3a febrile convulsions
|
C567820 |
|
|
convulsions, familial febrile, 3a
|
C567820 |
|
|
seizures, familial febrile, 3a
|
C567820 |
|
|
global cerebral hypomyelination
|
C567847 |
|
|
cystic, without megalencephaly leukoencephalopathy
|
C567845 |
|
|
fibular agenesis-hypoplasia, oligodactylous clubfeet, and anonychia-nail hypoplasia syndrome
|
C567819 |
|
|
congenital disorder of glycosylation, type io
|
C567857 |
|
|
combined, 1 pituitary hormone deficiency
|
C567803 |
|
|
congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal-spinal abnormalities
|
C567863 |
|
|
autosomal recessive parkinson disease 14
|
C567844 |
|
|
complete or partial, with 9p24.3 deletion 46,xy gonadal dysgenesis
|
C567887 |
|
|
nonsyndromic, autosomal recessive male infertility
|
C567832 |
|
|
autosomal recessive spastic paraplegia-50
|
C567858 |
|
