Conditions / Genetic
chromosome 17q12 deletion syndrome
info · Genetic · ICD-10: Q93.5
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic
A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.
Signs and symptoms
- Unilateral renal agenesis
- Renal hypoplasia
- Sparse eyebrow
- Hyperechogenic kidneys
- Autism
- Unicornuate uterus
- Retrognathia
- Intellectual disability
- Highly arched eyebrow
- Recurrent urinary tract infections
Also known as: 17q12 microdeletion syndrome