| umls-concept:C0349653 | skos:definition | JABL: Partial deficiency of N-linked glycans of secretory glycoproteins, lysosomal enzymes, membranous glycoproteins. Phosphomannomutase (E.C. 5.4.2.8) deficiency is the basic metabolic defect. Stabismus with rowing eye movements, polyneuropathy, axial hypotonia, severe psychomotor retardation, ataxia, and hyporeflexia are the leading symptoms. Large dysplasgtic ears, abnormal subcutaneous fat distribution, orange peel skin, skeletal anomalies, abnormal subcutaneous fat distribution, and other defects may be associated. Some case exhibit symptoms of Donohue syndrome (or leprechaunism) with lipodystrophy and lack of adipose tissue, grotesque small face, large phallus, hyperplastic breasts in females, hyperplasia of Leydig cell and islands of Langerhans; Smith-Lemli-Opitz syndrome with characteristic facies, whitish blond hair, genital anomalies, cleft palate, and Marfan syndrome with dysplastic ears, stature, little subcutaneous fat, hypotonia, and arachnodactyly. | lld:umls |
