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LOC syndrome
1 OMIM reference -
1 associated gene
18 connected diseases
15 signs/symptoms
Disease Type of connection
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
Hypoplastic amelogenesis imperfecta
APC-related attenuated familial adenomatous polyposis
Desmoid tumor
Erythrocyte galactose epimerase deficiency
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Generalized galactose epimerase deficiency
Turcot syndrome with polyposis
Osteogenesis imperfecta type 3
Cobblestone lissencephaly without muscular or ocular involvement
Hypoplasminogenemia
Junctional epidermolysis bullosa inversa
LAMB-2-related infantile-onset nephrotic syndrome
Ligneous conjunctivitis
Pierson syndrome
Synaptic congenital myasthenic syndromes
Synonym(s):
- LOGIC syndrome
- Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
- Laryngo-onycho-cutaneous syndrome
- Shabbir syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare respiratory disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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
LAMA3 Q16787600805
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal fingernails
- Abnormal pigmentation of the oral mucosa / gingivae
- Abnormal toenails
- Absent / small fingernails / anonychia of hands
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Corneal clouding / opacity / vascularisation
- Death in infancy
- Enamel anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Frequent
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction