Phenotypes associated with the disease neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus (OMIM:619653, an entry in Online Mendelian Inheritance in Man):
- Inability to walk (HP:0002540, a Human Phenotype Ontology term): Incapability to ambulate. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 4/11. (PMID:32099069)
- Dystonia (HP:0001332, a Human Phenotype Ontology term): 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: 7/13. (PMID:32099069)
- Apraxia (HP:0002186, a Human Phenotype Ontology term): A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. Evidence: PCS. Frequency: 7/13. (PMID:32099069)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:32099069)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 13/13. (PMID:32099069)
- Thin corpus callosum (HP:0033725, a Human Phenotype Ontology term): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 1/11. (PMID:32099069)
- Slow saccadic eye movements (HP:0000514, a Human Phenotype Ontology term): An abnormally slow velocity of the saccadic eye movements. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Distal upper limb amyotrophy (HP:0007149, a Human Phenotype Ontology term): Muscular atrophy of distal arm muscles. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Generalized dystonia (HP:0007325, a Human Phenotype Ontology term): A type of dystonia that affects all or most of the body. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- CNS demyelination (HP:0007305, a Human Phenotype Ontology term): A loss of myelin from nerve fibers in the central nervous system. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Opisthotonus (HP:0002179, a Human Phenotype Ontology term): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: PCS. Frequency: 6/12. (PMID:32099069;PMID:28334938)
- Axial hypotonia (HP:0008936, a Human Phenotype Ontology term): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: PCS. Frequency: 8/12. (PMID:32099069)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 12/13. (PMID:32099069)
- Parkinsonism (HP:0001300, a Human Phenotype Ontology term): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: PCS. (PMID:32099069)
- Choreoathetosis (HP:0001266, a Human Phenotype Ontology term): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: PCS. Frequency: 11/11. (PMID:32099069;PMID:28334938)
- Distal upper limb muscle weakness (HP:0008959, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Lower limb hyperreflexia (HP:0002395, a Human Phenotype Ontology term): Increased intensity of the a reflex in the leg. Evidence: PCS. Frequency: 10/12. (PMID:32099069)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Spastic tetraparesis (HP:0001285, a Human Phenotype Ontology term): Spastic weakness affecting all four limbs. Evidence: PCS. Frequency: 1/1. (PMID:28334938)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 7/11. (PMID:32099069)
- Upper limb hyperreflexia (HP:0007350, a Human Phenotype Ontology term): Increased intensity of the a reflex in the arm. Evidence: PCS. Frequency: 7/12. (PMID:32099069)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:28334938)
- Partial agenesis of the corpus callosum (HP:0001338, a Human Phenotype Ontology term): A partial failure of the development of the corpus callosum. Evidence: PCS. Frequency: 1/11. (PMID:32099069)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 11/13. (PMID:32099069;PMID:28334938)