- Achilles tendon contracture (HP:0001771, a Human Phenotype Ontology term): A contracture of the Achilles tendon. Evidence: IEA. (OMIM:210000)
- 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:25012220)
- Dysmetria (HP:0001310, a Human Phenotype Ontology term): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: PCS. Frequency: 2/4. (PMID:25012220)
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 2/5. (PMID:25012220)
- 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. Frequency: 1/6. (PMID:25012220)
- 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: 6/6. (PMID:25012220)
- Sensory axonal neuropathy (HP:0003390, a Human Phenotype Ontology term): An axonal neuropathy of peripheral sensory nerves. Evidence: PCS. Frequency: 2/4. (PMID:25012220)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. (OMIM:210000)
- Sensorimotor neuropathy (HP:0007141, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/4. (PMID:25012220)
- 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: IEA. (OMIM:210000)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/6. (PMID:25012220)
- Chronic constipation (HP:0012450, a Human Phenotype Ontology term): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 3/6. (PMID:25012220)
- Blindness (HP:0000618, a Human Phenotype Ontology term): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: PCS. Frequency: 1/4. (PMID:25012220)
- Periventricular leukomalacia (HP:0006970, a Human Phenotype Ontology term): Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. Evidence: PCS. Frequency: 1/5. (PMID:25012220)
- Unsteady gait (HP:0002317, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/4. (PMID:25012220)
- Frequent falls (HP:0002359, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/4. (PMID:25012220)
- 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:210000)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:210000)
- Cerebellar vermis atrophy (HP:0006855, a Human Phenotype Ontology term): Wasting (atrophy) of the vermis of cerebellum. Evidence: PCS. Frequency: 2/4. (PMID:25012220)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 2/6. (PMID:25012220)
- Truncal ataxia (HP:0002078, a Human Phenotype Ontology term): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: PCS. Frequency: 1/4. (PMID:25012220)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:210000)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: IEA. (OMIM:210000)
- Hamstring contractures (HP:0003089, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:210000)
- 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: 1/4. (PMID:25012220)
- Progressive spasticity (HP:0002191, a Human Phenotype Ontology term): Spasticity that increases in degree with time. Evidence: IEA. (OMIM:210000)
- Progressive visual loss (HP:0000529, a Human Phenotype Ontology term): A reduction of previously attained ability to see. Evidence: TAS. (OMIM:210000)
- Hypoplastic optic chiasm (HP:0034311, a Human Phenotype Ontology term): Developmental defect characterized by undergrowth of the optic chiasm. Evidence: PCS. Frequency: 1/4. (PMID:25012220)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 4/4. (PMID:25012220)
- 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:25012220)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 2/4. (PMID:25012220)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 6/6. (PMID:25012220)
- Adductor longus contractures (HP:0006366, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:210000)
- Tremor (HP:0001337, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: PCS. Frequency: 1/4. (PMID:25012220)
These phenotypes are associated with the disease Behr syndrome (OMIM:210000, an entry in Online Mendelian Inheritance in Man).