Deutsch
IllnessHoloprosencephalc, microform; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Microform holoprosencephaly comprising altogether 8 curated genes according to the clinical signs
ID
HP9950
Number of genes
7
Accredited laboratory test
Examined sequence length
10,4 kb (Core-/Core-canditate-Genes)
14,7 kb (Extended panel: incl. additional genes)
14,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Synonyms
- Abbr.: SMMCI
- Alias: Fused incisors
- Alias: Holoprosencephaly, minor form
- Alias: Holoprosencephaly-like
- Alias: Microform holoprosencephaly
- Alias: Mikroform der Holoprosenzephalie
- Alias: Schneidezahn, zentraler oberer einzelner
- Alias: Single upper central incisor
- Alias: Solitary median maxillary central incisor [SMMCI] syndrome
- Alias: Syndrom des einzelnen maxillären mittleren Schneidezahnes
- Allelic: Basal cell carcinoma, somatic (PTCH1)
- Allelic: Basal cell nevus syndrome (PTCH1)
- Allelic: Duane-radial ray syndrome (SALL4)
- Allelic: IVIC syndrome (SALL4)
- Allelic: Microphthalmia with coloboma 5 (SHH)
- Allelic: Mullegama-Klein-Martinez syndrome (STAG2)
- Allelic: Schizencephaly (SHH, SIX3)
- Culler-Jones syndrome (GLI2)
- Holoprosencephaly 13, XL (STAG2)
- Holoprosencephaly 2 (SIX3)
- Holoprosencephaly 3 (SHH)
- Holoprosencephaly 4 (TGIF1)
- Holoprosencephaly 5 (ZIC2)
- Holoprosencephaly 7 (PTCH1)
- Holoprosencephaly 9 (GLI2)
- Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
- Single median maxillary central incisor (SHH)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined