Phenotypes associated with the disease pontocerebellar hypoplasia type 1A (OMIM:607596, an entry in Online Mendelian Inheritance in Man):
- Progressive (HP:0003676, a Human Phenotype Ontology term): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:19646678)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): 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: 1/2. (PMID:19646678)
- Distal amyotrophy (HP:0003693, a Human Phenotype Ontology term): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Cerebral cortical atrophy (HP:0002120, a Human Phenotype Ontology term): Atrophy of the cortex of the cerebrum. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Sleep disturbance (HP:0002360, a Human Phenotype Ontology term): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Fasciculations (HP:0002380, a Human Phenotype Ontology term): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- 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: 1/2. (PMID:19646678)
- Enlarged cisterna magna (HP:0002280, a Human Phenotype Ontology term): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Hypoplasia of the pons (HP:0012110, a Human Phenotype Ontology term): Underdevelopment of the pons. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Sensorimotor neuropathy (HP:0007141, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Fetal onset (HP:0011461, a Human Phenotype Ontology term): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: IEA. Frequency: 1/2. (PMID:19646678)
- Neuronal loss in basal ganglia (HP:0200147, a Human Phenotype Ontology term): A reduction in the number of nerve cells in the basal ganglia. Evidence: TAS. (OMIM:607596)
- Feeding difficulties in infancy (HP:0008872, a Human Phenotype Ontology term): 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: IEA. (OMIM:607596)
- Tongue fasciculations (HP:0001308, a Human Phenotype Ontology term): Fasciculations or fibrillation affecting the tongue muscle. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Hypoplasia of the ventral pons (HP:0006850, a Human Phenotype Ontology term): Underdevelopment of the ventral portion of the pons. Evidence: IEA. (OMIM:607596)
- Spinal muscular atrophy (HP:0007269, a Human Phenotype Ontology term): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: IEA. (OMIM:607596)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: IEA. (OMIM:607596)
- Intercostal muscle weakness (HP:0004878, a Human Phenotype Ontology term): Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:607596)
- Brisk reflexes (HP:0001348, a Human Phenotype Ontology term): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:607596)
- Demyelinating peripheral neuropathy (HP:0007108, a Human Phenotype Ontology term): Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Basal ganglia gliosis (HP:0006999, a Human Phenotype Ontology term): Focal proliferation of glial cells in the basal ganglia. Evidence: TAS. (OMIM:607596)
- Abnormal foot morphology (HP:0001760, a Human Phenotype Ontology term): An abnormality of the skeleton of foot. Evidence: IEA. (OMIM:607596)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Hand tremor (HP:0002378, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- EMG: neuropathic changes (HP:0003445, a Human Phenotype Ontology term): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: IEA. (OMIM:607596)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Lateral ventricle dilatation (HP:0006956, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): 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: 2/2. (PMID:19646678)
- Degeneration of anterior horn cells (HP:0002398, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:607596)
- Cerebellar hypoplasia (HP:0001321, a Human Phenotype Ontology term): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 2/2. (PMID:19646678)
- Poor suck (HP:0002033, a Human Phenotype Ontology term): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- 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: 11/12. (OMIM:607596;PMID:19646678)
- Limb ataxia (HP:0002070, a Human Phenotype Ontology term): A kind of ataxia that affects movements of the extremities. Evidence: PCS. Frequency: 1/2. (PMID:19646678)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:607596)
- Congenital contracture (HP:0002803, a Human Phenotype Ontology term): One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. Evidence: IEA. (OMIM:607596)
- 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:19646678)