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Illness[Tip] Toe walking, differential diagnosis

Summary

Short information

Comprehensive panel for [Tip] Toe walking, differential diagnosis, containing 2 core candidate genes and altogether 14 curated genes.

ID
ZP2581
Number of genes
0 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

ZP2581_DH

 

Gene panel

Selected genes

No genes linked

Informations about the disease

Synonyms
  • Alias: Zehen-Gang
  • Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
  • Allelic: Alpha-aminoadipic and alpha-ketoadipic aciduria (AIFM1)
  • Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
  • Allelic: Deafness, XL 5 (AIFM1)
  • Allelic: Dejerine-Sottas disease (EGR2)
  • Allelic: Dejerine-Sottas disease (PMP22)
  • Allelic: Dejerine-Sottas disease (PRX)
  • Allelic: Mononeuropathy of the median nerve, mild (SH3TC2)
  • Allelic: Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
  • Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
  • Allelic: Neuropathy, inflammatory demyelinating (PMP22)
  • Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
  • Allelic: Pheochromocytoma (KIF1B)
  • Allelic: Roussy-Levy syndrome (PMP22)
  • Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
  • Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
  • Charcot-Marie-Tooth disease, axonal, type 2Q (AIFM1)
  • Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
  • Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
  • Charcot-Marie-Tooth disease, dominant intermediate G (NRFL)
  • Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1D (EGR2)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Charcot-Marie-Tooth disease, type 1F (NRFL)
  • Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
  • Charcot-Marie-Tooth disease, type 2E (NRFL)
  • Charcot-Marie-Tooth disease, type 4A (GDAP1)
  • Charcot-Marie-Tooth disease, type 4B2 (SBF2)
  • Charcot-Marie-Tooth disease, type 4C (SH3TC2)
  • Charcot-Marie-Tooth disease, type 4F (PRX)
  • Charcot-Marie-Tooth disease, type 4H (FGD4)
  • Cowchock syndrome (AIFM1)
  • Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
  • Hypomyelinating neuropathy, congenital, 1 (EGR2)
  • Spinocerebellar ataxia 13 (KCNC3)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined