| BETA-MANNOSIDOSIS | |
| MANNOSIDOSIS, BETA-; MANNOSIDOSIS; MANBA | |
|
248510
OMIM = Online Mendelian Inheritance of Men | |
|
118 | |
| lysosomal beta-mannosidase | |
| 3.2.1.25 | |
| rare (20 cases) autosomal recessive first described in goates with dysmyelinisation | |
| Laboratory findings | beta-Mannosidase dec (leucocytes) beta-Mannosidase dec (fibroblasts) Dolichol inc (serum) Oligosaccharides inc (urine) |
| Symptoms | hearing defect, deafness coarse facial features intellectual disability/intellectual developmental disorder short stature achalasia angiokeratoma ataxia behavior, hyperactive, restless cerebral atrophy dysmorphism feeding difficulties, poor feeding hydrocephalus hypertonia, spasticity hypotonia infections (severe or recurrent) mental retardation normal at birth onset, childhood onset, infancy seizures speech development, delayed, abnormal |