Db	Link	Name	Definition	Comment	Is a
HPO	HP:0003593	Infantile onset	"Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson]	Onset of signs or symptoms of disease within the first 12 months of life.	HP:0410280
HPO	HP:0001272	Cerebellar atrophy	"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." [HPO:probinson, PMID:12169461, PMID:26331051]	Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.	HP:0001317
HPO	HP:0001347	Hyperreflexia	"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson]	Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less.	HP:0031826
HPO	HP:0002066	Gait ataxia	"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." [HPO:probinson, UKT:rschuele]	—	HP:0001251, HP:0001288
HPO	HP:0008003	Jerky ocular pursuit movements	—	—	HP:0000617
HPO	HP:0100543	Cognitive impairment	"Abnormal cognition with deficits in thinking, reasoning, or remembering." [HPO:sdoelken]	An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions.	HP:0011446
HPO	HP:0000750	Delayed speech and language development	"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson]	Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.	HP:0002167, HP:0002463, HP:0012758
HPO	HP:0001310	Dysmetria	"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." [HPO:probinson]	Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner.	HP:0001251
HPO	HP:0001257	Spasticity	"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson]	—	HP:0001276, HP:0002493
HPO	HP:0001263	Global developmental delay	"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." [DDD:hvfirth, HPO:sdoelken]	Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication.	HP:0012758
OMIM	OMIM:600224	SPINOCEREBELLAR ATAXIA 5; SCA5	—	—	—
OMIM	OMIM:615386	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14	—	—	—