Synonym(s): - Osteopetrosis autosomal dominant type 2
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CLCN7	P51798	602727

- Arthritis / synovitis / synovial proliferation
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Epiphyseal anomaly
- Facial palsy
- Frontal bossing / prominent forehead
- Joint dislocation / subluxation
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Mutiple fractures / bone fragility
- Osteoarthritis
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Osteonecrosis / bone infarction
- Osteosclerosis / osteopetrosis / bone condensation
- Terminal / third phalangeal bone of fingers hypoplasia

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anaemia
- Genu valgum
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Short stature / dwarfism / nanism
- Visual loss / blindness / amblyopia

- Hearing loss / hypoacusia / deafness
- Hydrocephaly
- Hypocalcemia
- Multiple caries
- Red cell disorders
- White cell disorders