Synonym(s): - Primary immunodeficiency syndrome with short stature
Classification (Orphanet): - Rare genetic disease - Rare immune disease Entire classification		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
LAMTOR2	Q9Y2Q5	610389

- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Albinism (hair)
- Autosomal recessive inheritance
- Coarse face
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphocytes anomalies
- Polynuclear cells / neutrophils anomalies / neutropenia
- Short stature / dwarfism / nanism
- T-cell deficiency / cellular immunity deficiency