Cataract, and Bradykinesia

Diseases related with Cataract and Bradykinesia

In the following list you will find some of the most common rare diseases related to Cataract and Bradykinesia that can help you solving undiagnosed cases.


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Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Medium match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

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Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1


Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 Is also known as msa1, susceptibility to

Related symptoms:

  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Low match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1


Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease|pkan|pkan neuroaxonal dystrophy, juvenile-onset|pantothenate kinase-associated neurodegeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Bradykinesia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Rigidity Very Common - Between 80% and 100% cases
Gait disturbance Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Bradykinesia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Parkinsonism

Common Symptoms - More than 50% cases


Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases


Hypogonadism Dysphagia Sensory axonal neuropathy Myopathy Hearing impairment Abnormal pyramidal sign Depressivity Gait ataxia Ptosis Visual impairment Intellectual disability Skeletal muscle atrophy Fatigue Pes cavus Areflexia Hyporeflexia Elevated serum creatine phosphokinase Cerebellar atrophy Dementia Dysphonia Neurodegeneration Abnormality of extrapyramidal motor function Hypothyroidism Babinski sign Resting tremor Diabetes mellitus Frequent falls Sensory neuropathy Ragged-red muscle fibers EMG: myopathic abnormalities Subsarcolemmal accumulations of abnormally shaped mitochondria Ophthalmoparesis Bipolar affective disorder Multiple mitochondrial DNA deletions Mitochondrial myopathy Cytochrome C oxidase-negative muscle fibers Progressive external ophthalmoplegia Postural tremor Dilated cardiomyopathy Thrombocytopenia Hyperreflexia Developmental regression Urinary incontinence Orofacial dyskinesia Slurred speech Mental deterioration Abnormality of movement Falls Anemia Peripheral axonal neuropathy Neoplasm Hypergonadotropic hypogonadism Pigmentary retinopathy Constipation Generalized hypotonia Cogwheel rigidity Shuffling gait Mask-like facies Exercise intolerance External ophthalmoplegia Retinopathy Brain atrophy Proximal muscle weakness Muscle weakness Short stature Cardiomyopathy Ophthalmoplegia Sensorineural hearing impairment Paresthesia Limb muscle weakness Gliosis

Rare Symptoms - Less than 30% cases


Urinary urgency Strabismus Abnormal facial shape Migraine Cryptorchidism Delayed speech and language development Intrauterine growth retardation Ventriculomegaly Hypoplasia of the corpus callosum Immunodeficiency Nystagmus Increased serum lactate Microcephaly Osteoporosis Stooped posture Impaired distal proprioception Progressive ophthalmoplegia Failure to thrive Edema Hypertonia Gastroesophageal reflux Midface retrusion Abnormality of the liver Iris hypopigmentation Congenital cataract Ankle clonus Goiter Hyperpigmentation of the skin Recurrent respiratory infections Recurrent infections Synophrys Mood swings Hepatomegaly Melanocytic nevus Schizophrenia Tics Cerebral calcification Motor tics Growth delay Motor delay Obesity Postural instability Rod-cone dystrophy Neuronal loss in central nervous system Peripheral demyelination Behavioral abnormality Truncal obesity Bilateral cryptorchidism Deeply set eye Dysdiadochokinesis Leukopenia Dystonia Broad-based gait Cutaneous photosensitivity Neurological speech impairment Apraxia Progressive cerebellar ataxia Choreoathetosis Clumsiness Oral-pharyngeal dysphagia Dysmetria Muscle fiber necrosis Prominent nasal bridge Impaired distal vibration sensation Nocturia Basal ganglia calcification Myalgia Limb ataxia Generalized muscle weakness Muscle stiffness Increased variability in muscle fiber diameter Progressive muscle weakness Left ventricular hypertrophy Muscle cramps Facial palsy Emotional lability Anxiety Premature ovarian insufficiency Pain Optic atrophy Arrhythmia Cerebral atrophy Memory impairment Amenorrhea Parkinsonism with favorable response to dopaminergic medication Respiratory insufficiency Camptocormia Orthostatic syncope Orthostatic hypotension due to autonomic dysfunction Central sleep apnea Civatte bodies Iris atrophy Abnormality of circulating catecholamine level Axial dystonia Autonomic bladder dysfunction Abnormal brain FDG positron emission tomography Autonomic erectile dysfunction Female anorgasmia Abnormal rapid eye movement sleep Hypertriglyceridemia Hypertension Corneal opacity Abnormal cerebellum morphology Dyskinesia Vertigo Pancytopenia Abnormal leukocyte morphology Gingivitis Epistaxis Paralysis Foot dorsiflexor weakness Recurrent cutaneous abscess formation Encephalopathy Headache Amblyopia Giant melanosomes in melanocytes Skin ulcer Abnormality of multiple cell lineages in the bone marrow Gingival bleeding Recurrent systemic pyogenic infections Orthostatic hypotension Olivopontocerebellar atrophy Generalized osteoporosis Basilar impression Absent axillary hair Posterior polar cataract Generalized hyperpigmentation Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Hypopigmentation of hair Posterior scalloping of vertebral bodies Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Torus palatinus Absent facial hair Dysuria Hypohidrosis Raynaud phenomenon Psychosis Gaze-evoked nystagmus Bowel incontinence Impotence Cranial nerve paralysis Anhidrosis Stridor Abnormal autonomic nervous system physiology Abnormality of vision Increased size of the mandible Hypotension Syncope Decreased nerve conduction velocity Small hand Pallor Hyperhidrosis Albinism Cerebral hemorrhage Superiorly displaced ears Calcification of the auricular cartilage Chorea Progressive night blindness Progressive neurologic deterioration Personality changes Jaundice Peripheral visual field loss Abnormality of the musculature Global brain atrophy Hepatosplenomegaly Hypersplenism Decreased muscle mass Alzheimer disease Obsessive-compulsive behavior Hip contracture Impulsivity Partial albinism Akinesia Difficulty walking Cachexia Hyperkinesis Torticollis Joint dislocation Photophobia Reduced visual acuity Splenomegaly Involuntary movements Abnormal cranial nerve morphology Obsessive-compulsive trait Anarthria Facial grimacing Muscle fiber splitting Eyelid apraxia Cerebral degeneration Acanthocytosis White hair Eye of the tiger anomaly of globus pallidus Generalized dystonia Loss of speech Spinocerebellar tract degeneration Hemophagocytosis Aceruloplasminemia Palilalia Generalized hypopigmentation Progressive peripheral neuropathy Fever Blepharospasm Atrial septal defect Stereotypy Abnormality of skin pigmentation Gastrointestinal hemorrhage Focal dystonia Abnormal bleeding Lymphoma Recurrent bacterial skin infections Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Alcoholism Pseudohypoparathyroidism Calcinosis Micrographia Abnormal lower motor neuron morphology Oculogyric crisis Lewy bodies Frontotemporal dementia Progressive encephalopathy Abnormality of neuronal migration Equinovarus deformity Hypofibrinogenemia Periodontitis Hypopigmentation of the skin Neutropenia Retinal degeneration Dense calcifications in the cerebellar dentate nucleus Abnormality of the foot Nyctalopia Feeding difficulties in infancy Weight loss Hyperactivity Blindness Talipes equinovarus Feeding difficulties Spasticity Fair hair Bruising susceptibility Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Abnormality of the eye Leukemia Spastic paraplegia Macular hypoplasia Paraplegia Lymphadenopathy Athetosis Unilateral renal agenesis Congenital hypothyroidism Abnormal nerve conduction velocity Lactic acidosis Abnormality of eye movement Lethargy Elevated hepatic transaminase Acidosis Homonymous hemianopia Sensory ataxic neuropathy Optic neuritis Abnormality of the cerebrospinal fluid Neuritis Atrial fibrillation Weak voice Increased muscle fatiguability Positive Romberg sign Muscle fiber atrophy Hand muscle weakness Hemianopia Gastrointestinal dysmotility Stroke-like episode Action tremor Dyschromatopsia Coma Primary amenorrhea Increased CSF protein Hyperthyroidism Abnormality of the mitochondrion Skeletal myopathy Absent Achilles reflex Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Gonadal dysgenesis Secondary amenorrhea Palpitations Rhabdomyolysis Exertional dyspnea Hypokinesia Difficulty climbing stairs Glucose intolerance Abnormality of mitochondrial metabolism Easy fatigability Ventricular arrhythmia Sensorimotor neuropathy Cerebral visual impairment Progressive proximal muscle weakness Abnormality of the periventricular white matter Gastroparesis Distal lower limb amyotrophy Ventricular hypertrophy Lower limb muscle weakness Severe global developmental delay Cerebral cortical atrophy Hyperesthesia Hydrometrocolpos Lower limb hypertonia Cystic renal dysplasia Distal lower limb muscle weakness Lower limb hyperreflexia Diplopia Macular dystrophy Toe walking Impaired vibratory sensation Cone/cone-rod dystrophy Spastic gait Lower limb spasticity Renal dysplasia Postaxial polydactyly Abnormality of the kidney Polydactyly Status epilepticus Bradycardia Abnormal retinal morphology Abnormality of the cerebral white matter Generalized amyotrophy Mildly elevated creatine phosphokinase Steppage gait Respiratory insufficiency due to muscle weakness Scapular winging Mitral regurgitation Mitral valve prolapse Distal sensory impairment Confusion Stroke Progressive hearing impairment Distal muscle weakness Sensory ataxia Limb-girdle muscle weakness Insomnia Abnormality of the thyroid gland Coronary artery atherosclerosis Ventricular fibrillation Apathy Bilateral ptosis Mutism Testicular atrophy Acute rhabdomyolysis Sparse body hair Agenesis of corpus callosum Broad forehead Protruding ear Aggressive behavior Conductive hearing impairment Osteopenia Macrotia Narrow mouth Autism Brachycephaly Pectus excavatum Genu valgum Microphthalmia Malar flattening Kyphosis Intellectual disability, mild Intellectual disability, severe Hydrocephalus Anteverted nares Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Narrow chest Distal amyotrophy Micrognathia Paraparesis Mixed hearing impairment Anonychia Metatarsus adductus Self-injurious behavior Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Clonus Short distal phalanx of finger Gynecomastia Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Hip dysplasia Otitis media Nevus Hypoplasia of the maxilla Downturned corners of mouth Flexion contracture Scoliosis Quadriceps muscle weakness Attention deficit hyperactivity disorder Convex nasal ridge Renal agenesis Broad nasal tip Triangular face Polyneuropathy Long face Hypermetropia Small for gestational age Short philtrum Sparse hair Limb undergrowth Postnatal growth retardation High forehead Mandibular prognathia Micropenis Severe short stature Inguinal hernia Clinodactyly Hernia Long philtrum Focal white matter lesions Decreased testicular size Sloping forehead Long neck Long nose Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Cortical gyral simplification Hypotelorism Ectopic kidney High pitched voice Acanthosis nigricans Short chin Bone marrow hypocellularity Lymphopenia Insulin resistance Abnormal lung morphology Renal hypoplasia Epidermal acanthosis Generalized hypopigmentation of hair



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