ErkrankungHypertrichosis, konnatal; Differentialdiagnose

HP8888_DH

• Allelic: Ablepharon-macrostomia syndrome (TWIST2)
• Allelic: Atrial fibrillation, familial, 12 (ABCC9)
• Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
• Allelic: Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
• Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
• Allelic: Intellectual developmental disorder, AD 29 (SETBP1)
• Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
• Allelic: Intellectual disability and myopathy syndrome (ABCC9)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Mungan syndrome (RAD21)
• Allelic: Panhypopituitarism, XL (SOX3)
• Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
• Allelic: Temple-Baraitser syndrome (KCNH1)
• Barber-Say syndrome (TWIST2)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 2 (ARID1A)
• Coffin-Siris syndrome 3 (SMARCB1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Coffin-Siris syndrome 5 (SMARCE1)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Hypertrichosis, congenital generalized, with gingival hyperplasia (ABCA5)
• Hypertrichosis, generalised congenital, type Macias-Flores [orphanet] (SOX3)
• Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Wiedemann-Steiner syndrome (KMT2A)
• Zimmermann-Laband syndrome 1 (KCNH1)
• Zimmermann-Laband syndrome 2 (ATP6V1B2)
• Zimmermann-Laband syndrome 3 (KCNN3)