Deutsch
IllnessUNC80-Defizienz: Hypotonie-Sprachstörung-kognitive Entwicklungsverzögerung; Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for UNC80 deficiency comprising 1 or altogether 7 curated genes according to the clinical signs
ID
HP5552
Number of loci
| Loci type | Count |
|---|---|
| Gen | 7 |
Examined sequence length
9,8 kb (Core-/Core-canditate-Genes)
29,3 kb (Extended panel: incl. additional genes)
29,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Informations about the disease
Clinical Comment
illness_ClinicalComment_HP5552
Synonyms
- Alias: Hypotonia-speech impairment-severe cognitive delay syndrome (UNC80)
- Alias: Infantile Hypotonie mit psychomotorischer Retardierung + charakteristischem Gesicht (UNC80)
- Alias: Infantile hypotonia-psychomotor retardation-characteristic facies syndrome (UNC80)
- Alias: UNC80 deficiency
- Allelic: Autism susceptibility, XL 3 (UNC80)
- Allelic: Rett syndrome, preserved speech variant (MECP2)
- Allelic: Schizophrenia 15 (SHANK3)
- Angelman syndrome (UBE3A)
- Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
- Encephalopathy, neonatal severe (MECP2)
- Glass syndrome: ID, dysmorphic face, microgn., downsl. palp. fiss., cleft palate, many teeth (SATB2)
- Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
- Hypotonia, infantile, with psychomotor retardation + characteristic facies 2 (UNC80)
- Hypotonia, infantile, with psychomotor retardation, characteristic facies 3 (TBCK)
- Intellectual developmental disorder, XL syndromic, Lubs type (MECP2)
- Intellectual developmental disorder, XL, syndromic 13 (MECP2)
- Phelan-McDermid syndrome (SHANK3)
- Rett syndrome (MECP2)
- Rett syndrome, atypical (MECP2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined