|
diamond-blackfan anemia 8
|
C567253 |
|
|
intracranial berry, 9 aneurysm
|
C567238 |
|
|
hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy
|
C567203 |
|
|
wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome
|
C567292 |
|
|
aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor
|
C567292 |
|
|
leukopenia, and atrial septal defect pulmonary arterial hypertension
|
C567260 |
|
|
immunodeficiency, hypogammaglobulinemia, and reduced b cells
|
C567200 |
|
|
severe congenital, autosomal recessive 4 neutropenia
|
C567260 |
|
|
joint hypermobility, and skin laxity, with or without metabolic abnormalities mental retardation
|
C567209 |
|
|
microcephaly, primary autosomal recessive, 5, with simplified gyral pattern
|
C567221 |
|
|
retinitis pigmentosa, autosomal recessive, Idh3b-Related
|
C567249 |
|
|
myopathy, congenital, compton-north
|
C567261 |
|
|
primary, 12 ciliary dyskinesia
|
C567211 |
|
|
primary, 11 ciliary dyskinesia
|
C567212 |
|
|
primary, 10 ciliary dyskinesia
|
C567287 |
|
