IllnessPitt-Hopkins syndrome, differential diagnosis

NGS +

Multiple congenital anomalies syndrome with association of intellectual deficit, characteristic facial morphology, problems of abnormal + irregular breathing

see also ORPHA:221150 Pitt-Hopkins-like syndrome

• Allelic: Autism susceptibility 15 (CNTNAP2)
• Allelic: Autism susceptibility, XL 3 (MECP2)
• Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Allelic: Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
• Allelic: Encephalopathy, neonatal severe (MECP2)
• Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
• Allelic: Hydranencephaly with abnormal genitalia (ARX)
• Allelic: Lissencephaly, XL 2 (ARX)
• Allelic: Mental retardation, XL 29 + others (ARX)
• Allelic: Mental retardation, XL syndromic, Lubs type (MECP2)
• Allelic: Mental retardation, XL, syndromic 13 (MECP2)
• Allelic: Partington syndrome (ARX)
• Allelic: Proud syndrome (ARX)
• Allelic: Schizophrenia, susceptibility to, 17 (NRXN1)
• Angelman syndrome (UBE3A)
• Desanto-Shinawi syndrome (WAC)
• Encephalopathy, severe epileptic with autonomic dysfunction
• Epileptic encephalopathy, early infantile, 4 (STXBP1)
• Mowat-Wilson syndrome (ZEB2)
• Pitt-Hopkins syndrome (TCF4)
• Pitt-Hopkins-like syndrome 1 (CNTNAP2)
• Pitt-Hopkins-like syndrome 2 (NRXN1)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)