Diabetes, deafness, developmental delay, and short stature syndrome
Summary
Clinical features
Help- Abnormality of metabolism/homeostasis
- Type 2 diabetes mellitus
Type 2 diabetes mellitus
- MedGen UID: 41523
- Concept ID: C0011860
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Type 2 diabetes mellitus
- Abnormality of the endocrine system
- Decreased circulating follicle stimulating hormone concentration
Decreased circulating follicle stimulating hormone concentration
- MedGen UID: 892977
- Concept ID: C4072889
- Finding: Finding
Abnormality of the endocrine system
- Decreased circulating luteinizing hormone level
Decreased circulating luteinizing hormone level
- MedGen UID: 893008
- Concept ID: C4072890
- Finding: Finding
Abnormality of the endocrine system
- Decreased thyroid-stimulating hormone level
Decreased thyroid-stimulating hormone level
- MedGen UID: 717708
- Concept ID: C1295607
- Finding: Finding
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism
- MedGen UID: 184926
- Concept ID: C0948896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Reduced circulating growth hormone concentration
Reduced circulating growth hormone concentration
- MedGen UID: 82880
- Concept ID: C0271561
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Decreased circulating follicle stimulating hormone concentration
- Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- High myopia
- Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Alopecia
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypopituitarism
Hypopituitarism
- MedGen UID: 9386
- Concept ID: C0020635
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.