Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Orpha code: 90023OMIM code: 610798

Definition

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.

Disease data
Classification

Disease

Synonyms
Primary immunodeficiency syndrome due to p14 deficiency
Zespół pierwotnego niedoboru odporności z niskim wzrostem
Primary immunodeficiency syndrome with short stature
ORPHA code
90023
OMIM code
610798
ICD10 code
D82.8
ICD11 code
-

No additional description.

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