go back

ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (CDG)

ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (CDG)
GMPPA-CDG
615510
OMIM = Online Mendelian Inheritance of Men
869
Mannose-1-phosphate guanyltransferase alpha
2q35
E27.4
rare
autosomal recessive
mutation in the GMPPA gene
Laboratory findings    IEF of serum transferrin (serum)
Symptoms    achalasia
    alacrima
    developmental delay
    dysmorphism
    dysphagia
    feeding difficulties, poor feeding
    gait disturbance
    growth retardation, poor growth
    hearing defect, deafness
    hyperkeratosis
    hypotonia
    intellectual disability/intellectual developmental disorder
    mental retardation
    nystagmus
    onset, neonatal
    psychomotor retardation
    sensory disturbances
    strabismus