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Developmental delay with autism spectrum disorder and gait instability
1 OMIM reference -
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
Familial pancreatic carcinoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
MPDU1-CDG
Angelman syndrome
Hereditary nonpolyposis colon cancer
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Xeroderma pigmentosum complementation group A
Glycogen storage disease due to liver phosphorylase kinase deficiency
Herpetic encephalitis
Seckel syndrome
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
- Developmental delay with ASD and gait instability
Classification (Orphanet):
- Rare genetic 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
HERC2 O95714605837
No signs/symptoms info available.