|
IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
|
32782 |
|
|
HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS
|
32787 |
|
|
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
|
32784 |
|
|
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
|
32788 |
|
|
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
|
32781 |
|
|
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
|
32780 |
|
|
GJC2 hereditary lymphedema
|
13278 |
|
|
malignant neoplasm of internal ear
|
3278 |
|
|
episodic, with myokymia ataxia
|
C563278 |
|
|
lymphedema, hereditary, type 1C
|
13278 |
|
|
polydactyly, postaxial, type a10
|
32785 |
|
