From HPO
Type A2 brachydactyly- MedGen UID:
- 318690
- •Concept ID:
- C1832702
- •
- Congenital Abnormality
Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).
Absent middle phalanx of 2nd finger- MedGen UID:
- 867078
- •Concept ID:
- C4021436
- •
- Finding
Absence of the middle phalanx of the index (2nd) finger.
Clinodactyly of the 2nd toe- MedGen UID:
- 867260
- •Concept ID:
- C4021620
- •
- Anatomical Abnormality
Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).
Thumbs hypoplastic with bulbous tips- MedGen UID:
- 870692
- •Concept ID:
- C4025146
- •
- Finding
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system