/alacrima, achalasia, and intellectual disability syndrome

alacrima, achalasia, and intellectual disability syndrome

Rare Disease

MONDO:0014219

Also Known As

alacrima, achalasia, and intellectual disability syndromealacrima, achalasia, and mental retardation syndromeAAMRGMPPA-CDG

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Gene data from MyGene.info • Click to view on NCBI Gene

immunodeficiency-centromeric instability-facial anomalies syndrome

MONDO:0000133

Neu-Laxova syndrome

MONDO:0000179

hypercalcemia, infantile

MONDO:0000212

Ochoa syndrome

MONDO:0000463

inclusion body myopathy with Paget disease of bone and frontotemporal dementia

MONDO:0000507

syndromic intellectual disability

MONDO:0000508