Phenotypes associated with the disease Adams-Oliver syndrome 3 (OMIM:614814):
- Short 5th toe (HP:0011917): Underdevelopment (hypoplasia) of the fifth toe. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/6. (PMID:22883147)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:22883147)
- Short palm (HP:0004279): Short palm. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 2/6. (PMID:22883147)
- Aplasia cutis congenita (HP:0001057): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: PCS. Frequency: 2/6. Onset: Congenital onset (HP:0003577). (PMID:22883147)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Absent toe (HP:0010760): Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Hypoplastic fifth fingernail (HP:0008398): A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. Evidence: PCS. Frequency: 1/6. (PMID:22883147)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: 2/6. (PMID:22883147)
- 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:22883147)