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developmental defect during embryogenesis
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ARX-related encephalopathy-brain malformation spectrum
?
TBD
human disease
combined oxidative phosphorylation defect type 30
?
TBD
human disease
Klinefelter syndrome
?
TBD
Human chromosomal condition
Kearns–Sayre syndrome
?
TBD
Genetic mitochondrial disease
Mowat–Wilson syndrome
?
TBD
Rare autosomal dominant genetic disorder
Von Hippel–Lindau disease
?
TBD
Medical condition
Rothmund–Thomson syndrome
?
TBD
Rare autosomal recessive skin condition
Familial multiple intestinal atresia
?
TBD
Medical condition
syndromic X-linked intellectual disability Shashi type
?
TBD
syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has material basis in mutation in the RBMX gene on chromosome Xq26
Kaufman oculocerebrofacial syndrome
?
TBD
Medical condition
Autosomal dominant leukodystrophy with autonomic disease
?
TBD
Medical condition
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