Hyperreflexia, and Diabetes mellitus

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

• Global developmental delay
• Hyperreflexia
• Dysarthria
• Intellectual disability, mild
• Pes cavus

SOURCES: ORPHANET MENDELIAN

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

• Neoplasm
• Peripheral neuropathy
• Hyperreflexia
• Tremor
• Gait disturbance

SOURCES: OMIM MENDELIAN

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

• Hyperreflexia
• Optic atrophy
• Cardiomyopathy
• Babinski sign
• Diabetes mellitus

SOURCES: ORPHANET MENDELIAN

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Growth delay

SOURCES: OMIM MESH MENDELIAN

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

• Intellectual disability
• Nystagmus
• Sensorineural hearing impairment
• Cataract
• Visual impairment

SOURCES: ORPHANET MENDELIAN

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

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

SOURCES: ORPHANET OMIM MENDELIAN

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

• Intellectual disability
• Generalized hypotonia
• Ataxia
• Muscle weakness
• Muscular hypotonia

SOURCES: OMIM ORPHANET MESH MENDELIAN

Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 15 Is also known as spg15|spastic paraplegia and retinal degeneration|kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia-retinal degeneration syndrome

• Intellectual disability
• Seizures
• Ataxia
• Nystagmus
• Muscle weakness

SOURCES: ORPHANET MESH OMIM MENDELIAN

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

• Seizures
• Ataxia
• Cognitive impairment
• Anemia
• Delayed speech and language development

SOURCES: OMIM ORPHANET MENDELIAN

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: ORPHANET OMIM MESH MENDELIAN