Phenotypes associated with the disease diencephalic-mesencephalic junction dysplasia syndrome 2 (OMIM:618646):
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:31412107)
- Decreased thalamic volume (HP:0012695): A reduction in the quantity of space occupied by the thalamus. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- 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:31412107)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:31412107)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/2. (PMID:31412107)
- Hypoplasia of the olfactory bulb (HP:0040326): Underdevelopment of the olfactory bulb. Evidence: PCS. Frequency: 2/2. (PMID:31412107)