- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:8826432)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:8826432)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:8826432)
- Cerebellar dysplasia (HP:0007033): Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. Evidence: PCS. Frequency: 2/2. Onset: Antenatal onset (HP:0030674). (PMID:8826432)
- Absent mesencephalon (HP:0007265): Agenesis of the midbrain. Evidence: PCS. Frequency: 2/2. Onset: Antenatal onset (HP:0030674). (PMID:8826432)
- 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: PCS. (PMID:8826432)
- Aprosencephaly (HP:0007268). Evidence: PCS. Frequency: 2/2. Onset: Antenatal onset (HP:0030674). (PMID:8826432)
- Poorly formed metencephalon (HP:0007027): A morphological abnormality of the metencephalon. Evidence: PCS. Frequency: 2/2. Onset: Antenatal onset (HP:0030674). (PMID:8826432)
- Retinal dysplasia (HP:0007973): Abnormal growth and differentiation, structure and appearance of the retina present from birth. Evidence: PCS. Frequency: 2/2. (PMID:8826432)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:8826432)
These phenotypes are associated with the disease aprosencephaly cerebellar dysgenesis (OMIM:601374).