Cataract, and Proximal muscle weakness

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G

Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

• Muscle weakness
• Cataract
• Myopathy
• Hyporeflexia
• Elevated serum creatine phosphokinase

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match GYRATE ATROPHY OF CHOROID AND RETINA

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

• Intellectual disability
• Cataract
• Delayed speech and language development
• Myopia
• Blindness

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

• Muscle weakness
• Cataract
• Ptosis
• Cognitive impairment
• Skeletal muscle atrophy

SOURCES: OMIM MENDELIAN

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

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

SOURCES: ORPHANET MENDELIAN

Low match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

• Neoplasm
• Muscle weakness
• Skeletal muscle atrophy
• Myopathy
• Osteopenia

SOURCES: OMIM ORPHANET MENDELIAN

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T

Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

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

SOURCES: OMIM MENDELIAN

Low match PROXIMAL MYOTONIC MYOPATHY

Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.

PROXIMAL MYOTONIC MYOPATHY Is also known as ricker syndrome|proximal myotonic dystrophy|myotonic dystrophy type 2|ricker disease

• Cataract
• Myotonia

SOURCES: ORPHANET MENDELIAN

Low match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

SOURCES: ORPHANET MENDELIAN