- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: PCS. (PMID:25758993)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: PCS. Frequency: 0/2. (PMID:25758993)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/2. (PMID:25758993)
- Short distal phalanx of the thumb (HP:0009650): Hypoplastic (short) distal phalanx of the thumb. Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Short proximal phalanx of finger (HP:0010241): Congenital hypoplasia of one or more proximal phalanx of finger. Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Short distal phalanx of the 2nd finger (HP:0009566): Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568). Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/2. (PMID:25758993)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25758993)
- Short proximal phalanx of thumb (HP:0009638): Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Evidence: PCS. Frequency: 2/2. (PMID:25758993)
These phenotypes are associated with the disease brachydactyly type A1D (OMIM:616849).