A form (OMIM:610743) of spinocerebellar ataxia characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar [medical-dictionary.thefreedictionary.com]

Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies SHRF EXOSC2 autosomal recessive SHORT Syndrome lipodystrophy with Rieger anomalies and short stature PIK3R1 autosomal dominant Short-Rib Thoracic Dysplasia 9 conorenal syndrome, Mainzer-Saldino [disorders.eyes.arizona.edu]

Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.medscape.com]

stature DRPLA Rare (USA) 20% (Japan) 8 - 20 or 40 - 60's Early onset correlates with shorter duration Chorea, seizures, dementia, myoclonus EA1 Unknown 1st decade (2-15) Attenuates after 20 Myokymia; attacks last seconds to minutes; startle or exercise [slideshare.net]

A form (OMIM:610743) of spinocerebellar ataxia characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar [medical-dictionary.thefreedictionary.com]

atresia, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia primary 31, jejunal atresia with microcephaly and ocular anomalies, STROMS CENPF autosomal recessive Sulfite Oxidase Deficiency sulfite oxidase deficiency SUOX autosomal [disorders.eyes.arizona.edu]

Volume 2 covers tumors, the phacomatoses, and vascular disease. Volume 3 covers degenerative, metabolic, infectious, inflammatory, and demyelinating diseases. [books.google.com]

disease Primary or metastatic tumors or paraneoplastic diseases associated with occult carcinoma of the ovary, breast, or lung Disorders of mitochondrial oxidative metabolism Hyperammonemias caused by deficiencies of urea cycle enzymes Aminoacidurias [centogene.com]

dysplasia autosomal recessive localized hypotrichosis, see autosomal recessive hypotrichosis autosomal recessive long QT syndrome (LQTS), see Jervell and Lange-Nielsen syndrome autosomal recessive neuromyotonia and axonal neuropathy, see autosomal recessive [mygenomics.com]

2000 ), clinical features are distinct, with coarse facial features, corneal clouding, hepatomegaly, skeletal dysplasia, learning disability and myoclonus. [academic.oup.com]

This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.com]

They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. [ghr.nlm.nih.gov]

[…] people who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood 0003581 Autosomal recessive inheritance 0000007 Cerebellar atrophy Degeneration of cerebellum 0001272 Dysarthria Difficulty articulating speech 0001260 Dysmetria [rarediseases.info.nih.gov]

They may also have difficulty with movements that involve judging distance or scale ( dysmetria ). Other features of ARCA1 include abnormal eye movements ( nystagmus ) and problems following the movements of objects with their eyes. [en.wikipedia.org]

There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements. There may be movement disorders. [patient.info]

Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]