|
juvenile amyotrophic lateral sclerosis 4
|
C566550 |
|
|
progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly arterial occlusive disease
|
C566529 |
|
|
synergistic divergence, jaw winking, and oculocutaneous hypopigmentation external ophthalmoplegia
|
C566509 |
|
|
hypospadias, and penoscrotal inversion anal atresia
|
C566526 |
|
|
colobomatous, with microcornea macrophthalmia
|
C566533 |
|
|
benign familial microcytic thrombocytosis
|
C566596 |
|
|
familial basilar migraine
|
C566540 |
|
|
spondyloepimetaphyseal dysplasia, missouri type
|
C566574 |
|
|
distal hereditary motor, with pyramidal features neuronopathy
|
C566550 |
|
|
chronic intestinal, neuropathic pseudoobstruction
|
C566502 |
|
|
familial enteric neuropathy
|
C566502 |
|
|
macrotia, and mental retardation microcephaly
|
C566525 |
|
|
glaucoma 1, open angle, d
|
C566551 |
|
|
idiopathic intestinal pseudoobstruction
|
C566502 |
|
|
cataracts, cleft palate, and mental retardation spondyloepiphyseal dysplasia with coronal craniosynostosis
|
C566515 |
|
