- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:211369)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:211369)
- Type A2 brachydactyly (HP:0009372). Evidence: IEA. (OMIM:211369)
- Seizure (HP:0001250): 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. Evidence: IEA. (OMIM:211369)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:211369)
- Absent middle phalanx of 2nd finger (HP:0009576): Absence of the middle phalanx of the index (2nd) finger. Evidence: TAS. (OMIM:211369)
- Thumbs hypoplastic with bulbous tips (HP:0005726). Evidence: IEA. (OMIM:211369)
- Clinodactyly of the 2nd toe (HP:0005824): Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). Evidence: IEA. (OMIM:211369)
These phenotypes are associated with the disease brachydactyly, type A2, with microcephaly (OMIM:211369).