|
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 |
|
|
Van Maldergem Wetzburger Verloes syndrome
|
17813 |
|
|
Glutaminase Deficiency With Neonatal Epileptic Encephalopathy
|
32678 |
|
|
Angelman-like syndrome, X-linked
|
10278 |
|
|
intellectual disability, X-linked syndromic, Christianson type
|
10278 |
|
|
mental retardation, X-linked syndromic, Christianson type
|
10278 |
|
|
auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy
|
10378 |
|
|
intellectual disability, X-linked, syndromic, Christianson type
|
10278 |
|
|
mental retardation, X-linked, syndromic, Christianson type
|
10278 |
|
|
mental retardation, X-linked, syndromic, Christianson type; MRXSCH
|
http://purl.obolibrary.org/obo/MONDO_0010278 |
|
|
mental retardation X-linked, tranebjaerg type seizures and psoriasis
|
C536978 |
|
