Phenotypes associated with the disease Valence-Farazi cerebellar ataxia syndrome (OMIM:621386, an entry in Online Mendelian Inheritance in Man):
- Clumsiness (HP:0002312, a Human Phenotype Ontology term): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: PCS. Frequency: 7/9. (PMID:40890458)
- Congenital hip dislocation (HP:0001374, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:40890458)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 6/10. (PMID:29997391;PMID:40890458)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 6/9. (PMID:40890458)
- 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: 1/1. (PMID:29997391)
- Delayed ability to walk (HP:0031936, a Human Phenotype Ontology term): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 4/4. (PMID:29997391;PMID:40890458)
- 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: 9/9. (PMID:40890458)
- Severe periodontitis (HP:0000166, a Human Phenotype Ontology term): Increased susceptibility to periodontitis, as manifested by severe periodontal infection with rapid alveolar bone loss, tooth mobility, and premature tooth exfoliation. Evidence: PCS. Frequency: 2/2. (PMID:40890458)
- Gait ataxia (HP:0002066, a Human Phenotype Ontology term): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: PCS. Frequency: 6/7. (PMID:40890458)
- 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: 2/9. (PMID:40890458)
- 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: 3/3. (PMID:29997391;PMID:40890458)
- 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: 1/1. (PMID:29997391)
- 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: 2/4. (PMID:29997391;PMID:40890458)
- Retrograde ejaculation (HP:0012877, a Human Phenotype Ontology term): The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. Evidence: PCS. Frequency: 2/2. (PMID:40890458)
- Hypoplasia of the pons (HP:0012110, a Human Phenotype Ontology term): Underdevelopment of the pons. Evidence: PCS. Frequency: 1/1. (PMID:29997391)
- Thick corpus callosum (HP:0007074, a Human Phenotype Ontology term): Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. Evidence: PCS. Frequency: 1/1. (PMID:29997391)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/1. (PMID:29997391)
- Small posterior fossa (HP:0040010, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:29997391)
- Cerebellar dysplasia (HP:0007033, a Human Phenotype Ontology term): 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: 1/1. (PMID:29997391)
- Specific learning disability (HP:0001328, a Human Phenotype Ontology term): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: PCS. Frequency: 1/1. (PMID:40890458)
- Osteomalacia (HP:0002749, a Human Phenotype Ontology term): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: PCS. Frequency: 1/1. (PMID:40890458)
- 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:29997391)
- Head titubation (HP:0002599, a Human Phenotype Ontology term): A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. Evidence: PCS. Frequency: 6/9. (PMID:40890458)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:29997391)