Cognitive impairment, and Photophobia

Medium match RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.

RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES Is also known as retinal dystrophy with inner nuclear layer and ganglion cell anomalies

• Dementia
• Photophobia
• Pallor
• Nyctalopia
• Retinal dystrophy

SOURCES: OMIM ORPHANET MENDELIAN

Medium match RETINITIS PIGMENTOSA 51; RP51

• Global developmental delay
• Cognitive impairment
• Myopia
• Blindness
• Rod-cone dystrophy

SOURCES: OMIM MENDELIAN

Medium match RETINITIS PIGMENTOSA 79; RP79

• Cognitive impairment
• Anemia
• Blindness
• Visual loss
• Rod-cone dystrophy

SOURCES: OMIM MENDELIAN

Medium match BOUCHER-NEUHAUSER SYNDROME; BNHS

Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

• Ataxia
• Spasticity
• Cognitive impairment
• Visual impairment
• Dysarthria

SOURCES: OMIM MENDELIAN

Medium match SPINOCEREBELLAR ATAXIA TYPE 7

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

• Global developmental delay
• Ataxia
• Nystagmus
• Failure to thrive
• Muscle weakness

SOURCES: ORPHANET MENDELIAN

Medium match NEPHROPATHIC INFANTILE CYSTINOSIS

Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

• Growth delay
• Failure to thrive
• Cognitive impairment
• Vomiting
• Constipation

SOURCES: ORPHANET MENDELIAN

Medium match MOHR-TRANEBJAERG SYNDROME

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

• Intellectual disability
• Hearing impairment
• Sensorineural hearing impairment
• Spasticity
• Visual impairment

SOURCES: ORPHANET OMIM MESH MENDELIAN

Medium match PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

• Global developmental delay
• Short stature
• Hearing impairment
• Microcephaly
• Ataxia

SOURCES: OMIM ORPHANET MENDELIAN

Medium match CYCLIC VOMITING SYNDROME; CVS

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD Is also known as xp8, formerly|xph, formerly|xp4 xeroderma pigmentosum viii, formerly|xpdc|xp, group d|xp, group h, formerly|xeroderma pigmentosum iv

• Intellectual disability
• Microcephaly
• Ataxia
• Neoplasm
• Sensorineural hearing impairment

SOURCES: OMIM MESH MENDELIAN