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Sucrosuria, hiatus hernia and intellectual disability

MedGen UID:
338583
Concept ID:
C1848963
Disease or Syndrome
Synonym: Sucrosuria, hiatus hernia and mental retardation
 
Monarch Initiative: MONDO:0010084
OMIM®: 272000

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hiatus hernia
MedGen UID:
483347
Concept ID:
C3489393
Acquired Abnormality
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

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