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Items: 2

1.

Chromosome 17q12 deletion syndrome

The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years). [from GeneReviews]

MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
2.

Abnormal upper lip morphology

An abnormality of the upper lip. [from HPO]

MedGen UID:
871388
Concept ID:
C4025884
Anatomical Abnormality

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