IllnessPitt-Hopkins syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Pitt-Hopkins syndrome comprising 3 or altogether 9 curated genes according to the clinical signs
ID
PP0610
Number of genes
8
Accredited laboratory test
Examined sequence length
10,7 kb (Core-/Core-canditate-Genes)
22,1 kb (Extended panel: incl. additional genes)
22,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
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
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.-
Bioinformatics and clinical interpretation
No text defined