Ataxia, and Myopia

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

• Intellectual disability
• Global developmental delay
• Ataxia
• Spasticity
• Myopia

SOURCES: OMIM MENDELIAN

Low match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

• Intellectual disability
• Generalized hypotonia
• Ataxia
• Nystagmus
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

• Seizures
• Global developmental delay
• Hearing impairment
• Ataxia
• Anemia

SOURCES: OMIM MENDELIAN

Low match USHER SYNDROME TYPE 2

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

• Hearing impairment
• Ataxia
• Nystagmus
• Sensorineural hearing impairment
• Cataract

SOURCES: ORPHANET OMIM MENDELIAN

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Strabismus

SOURCES: ORPHANET MENDELIAN

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: OMIM MENDELIAN

Low match LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

• Intellectual disability
• Short stature
• Generalized hypotonia
• Ataxia
• Nystagmus

SOURCES: OMIM MENDELIAN

Low match LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

• Intellectual disability
• Seizures
• Global developmental delay
• Ataxia
• Nystagmus

SOURCES: ORPHANET MENDELIAN

Low match EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

• Seizures
• Ataxia
• Nystagmus
• Spasticity
• Cognitive impairment

SOURCES: ORPHANET OMIM MENDELIAN