Klinische FragestellungHypoventilationssyndrom, zentrales; Differentialdiagnose

NGS +

illness_ClinicalComment_HP0891

• Alias: Central congenital hypoventilation syndrome
• Alias: Congenital central alveolar hypoventilation syndrome
• Alias: Ondine Syndrom
• Allelic: Encephalopathy, neonatal severe (MECP2)
• Allelic: Haddad syndrome (ASCL1)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Hirschsprung disease, susceptibility to, 3 (GDNF)
• Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Multiple endocrine neoplasia IIA (RET)
• Allelic: Multiple endocrine neoplasia IIB (RET)
• Allelic: Neuroblastoma with Hirschsprung disease (PHOX2B)
• Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
• Allelic: Pheochromocytoma (RET)
• Allelic: Pheochromocytoma, modifier of (GDNF)
• Allelic: Waardenburg syndrome, type 4B (EDN3)
• Autism susceptibility, XL3 (MECP2)
• Central hypoventilation syndrome, congenital (ASCL1, EDN3, GDNF, RET)
• Central hypoventilation syndrome, congenital, +/- Hirschsprung disease (PHOX2B_GCN)
• Central hypoventilation syndrome, congenital, 2, + autonomic dysfunction (MYO1H)
• Central hypoventilation syndrome, congenital, 3 (LBX1)
• Congenital myopathy 3 with rigid spine (SELENON)
• Hypotonia, hypoventilation, impaired ID, dysautonomia, epilepsy + eye abnormalities (P4HTM)
• Intellectual developmental disorder, XL syndromic 13 (MECP2)
• Intellectual developmental disorder, XL syndromic, Lubs type (MECP2)
• Neurodevelopmental disorder + neonatal respiratory insufficiency, hypotonia, feeding diff. (PURA)
• Restrictive respiratory syndrome, nocturnal hypoventilation (SELENON)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)