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Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
17q11 microdeletion syndrome
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Glycogen storage disease due to LAMP-2 deficiency
Mandibulofacial dysostosis-microcephaly syndrome
Papillary or follicular thyroid carcinoma
Retinitis pigmentosa
Severe combined immunodeficiency due to DNA-PKcs deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
THOC6 Q86W42615403
No signs/symptoms info available.