Ataxia, and Genu valgum

Diseases related with Ataxia and Genu valgum

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


Top matches:

Medium match RETT SYNDROME, CONGENITAL VARIANT


The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Medium match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Medium match GIANT AXONAL NEUROPATHY


Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

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Other less relevant matches:

Medium match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Medium match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Medium 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 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Top 5 symptoms//phenotypes associated to Ataxia and Genu valgum

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Genu valgum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Hyperreflexia Flexion contracture Pes cavus Babinski sign Skeletal muscle atrophy Motor delay Seizures Abnormality of the skeletal system Gait ataxia Intellectual disability, mild Areflexia Muscle weakness Gait disturbance Dysarthria Macrocephaly Short stature Talipes equinovarus Intellectual disability, severe Spastic paraparesis Abnormal pyramidal sign Cerebellar atrophy Midface retrusion Anemia Behavioral abnormality Slender build Optic atrophy Strabismus Osteopenia Pectus excavatum Difficulty walking Proximal muscle weakness Facial palsy Hearing impairment Frontal bossing Psychosis Nystagmus Macrotia Delayed speech and language development Cataract Myopathy Spastic paraplegia Apraxia Distal amyotrophy Drooling Paraparesis Dystonia Microcephaly Paraplegia Abnormality of the foot Spastic gait Pes planus

Rare Symptoms - Less than 30% cases


Abnormal hand morphology Micrognathia Hypertelorism Short neck High palate Tremor Abnormality of the dentition Abnormality of extrapyramidal motor function Poor coordination Choreoathetosis Restlessness Failure to thrive Clonus Cognitive impairment Hydrocephalus Hypertrophic cardiomyopathy Feeding difficulties in infancy Hyperlordosis Paralysis Neurological speech impairment Waddling gait Increased intracranial pressure Cranial hyperostosis Hypertonia Skeletal dysplasia Malar flattening Broad forehead Neurodegeneration Otitis media Hip dysplasia Knee flexion contracture Recurrent respiratory infections Respiratory tract infection Hepatosplenomegaly Mandibular prognathia Epicanthus Facial diplegia Downslanted palpebral fissures Dysphagia Anteverted nares Kyphoscoliosis Anxiety Dysmetria Gliosis Hallucinations Ankle clonus Hypogonadism Osteoporosis Mental deterioration Abnormality of the cerebral white matter Cerebral calcification Bone marrow hypocellularity Decreased pulmonary function Abnormal facial shape Pain Hepatomegaly Morphological abnormality of the pyramidal tract Splenomegaly Postnatal microcephaly Joint hypermobility Encephalopathy Abnormal cerebellum morphology Sensory neuropathy EEG abnormality Falls Bruxism Limb muscle weakness Abnormality of the hand Delayed myelination Constipation Peripheral neuropathy Inguinal hernia Hernia Ptosis Neonatal hypotonia Autism Hypoplasia of the corpus callosum Developmental regression Postnatal growth retardation Apnea Coarse facial features Posterior scalloping of vertebral bodies Torus palatinus Highly arched eyebrow Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Macroglossia Progressive cerebellar ataxia Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Absent facial hair Thick eyebrow Increased size of the mandible Immunodeficiency Prominent forehead Arthritis Delayed skeletal maturation Depressivity Recurrent infections Pectus carinatum Corneal opacity Cerebral atrophy Hypermetropia Umbilical hernia Ventriculomegaly Myopia Depressed nasal bridge Confusion Muscular hypotonia Sensorineural hearing impairment Superiorly displaced ears Calcification of the auricular cartilage Retinal degeneration Progressive gait ataxia Decreased number of peripheral myelinated nerve fibers Thoracic kyphosis Aggressive behavior Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Narrow chest Synophrys Congenital cataract Prominent nasal bridge Protruding ear Conductive hearing impairment Bradykinesia Deeply set eye Hypothyroidism Narrow mouth Brachycephaly Diabetes mellitus Agenesis of corpus callosum Microphthalmia Irritability Dyskinesia Cryptorchidism Gastroesophageal reflux Thick lower lip vermilion Irregular vertebral endplates Metatarsus adductus Insulin-resistant diabetes mellitus Striae distensae Hip contracture Congenital hypothyroidism Decreased antibody level in blood Sparse body hair Basal ganglia calcification Mixed hearing impairment Truncal obesity Anonychia Bilateral cryptorchidism Sparse scalp hair Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Hypergonadotropic hypogonadism Gynecomastia Thickened skin Abnormal form of the vertebral bodies Dental malocclusion Pancytopenia Peripheral demyelination Edema Pulmonary hypoplasia Arthrogryposis multiplex congenita Dilated cardiomyopathy Cough Rigidity Retrognathia Polyhydramnios Respiratory failure Hyporeflexia Congestive heart failure Cardiomyopathy Decreased fetal movement Respiratory distress Respiratory insufficiency Feeding difficulties Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Generalized muscle weakness Frequent falls Generalized abnormality of skin Spinal rigidity Percussion myotonia Fetal distress Diaphragmatic paralysis Neck flexor weakness Breech presentation Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence EMG: neuropathic changes Hypoventilation Thin ribs Bulbar palsy Joint contracture of the hand Mildly elevated creatine phosphokinase Myopathic facies Mask-like facies Myotonia Akinesia Congenital contracture EMG: myopathic abnormalities Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Narrow face Hypoplastic inferior ilia Increased hepatic glycogen content Optic disc pallor Recurrent bacterial infections Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Widely spaced teeth Narrow palate Thickened calvaria Low anterior hairline Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Elevated aldolase level Type II diabetes mellitus Abnormality of the sternum Bronchitis Increased vertebral height Abnormal cornea morphology Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormality of the rib cage Limb dystonia Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Neoplasm Cranial nerve compression Abnormal subcutaneous fat tissue distribution Sleep disturbance Slurred speech Hoarse voice Renal hypoplasia Encephalocele Progressive muscle weakness Lower limb spasticity Overgrowth Specific learning disability Prominent nose Horizontal nystagmus Short foot Impaired vibratory sensation Oculomotor apraxia Lower limb muscle weakness Camptodactyly Mutism Hydronephrosis Hypoplasia of the brainstem Clinodactyly Molar tooth sign on MRI Nephronophthisis Abnormal retinal morphology Emotional lability Hammertoe Severe postnatal growth retardation Overbite Renal cyst Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormality of brain morphology Abnormality of the nares Mood swings Spastic diplegia Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Scleroderma Postaxial hand polydactyly Occipital encephalocele Central apnea Intrauterine growth retardation Pili canaliculi Absent speech Polyneuropathy Sensory impairment Abnormality of the hair Fasciculations Sensorimotor neuropathy CNS hypomyelination Steppage gait Diffuse axonal swelling Abnormality of the Achilles tendon Abnormality of the pituitary gland Distal sensory impairment Curly eyelashes Sensory axonal neuropathy Red hair Hyporeflexia of lower limbs Brisk reflexes Areflexia of lower limbs Woolly hair Bulbar signs Motor axonal neuropathy Amyotrophic lateral sclerosis Axonal loss Pneumonia Muscular hypotonia of the trunk Abnormal corpus callosum morphology Excessive salivation Brachydactyly Meningoencephalocele Episodic tachypnea Low-set ears Brainstem dysplasia Neonatal breathing dysregulation Absence of renal corticomedullary differentiation Juvenile cataract Mania Progressive spastic paraparesis Shuffling gait Small hand Macroorchidism Facial hypotonia High forehead Distal muscle weakness Progressive spasticity Clumsiness Unsteady gait Peripheral axonal neuropathy Spastic tetraplegia Parkinsonism Tetraplegia Hypertension Retinal dystrophy Cortical thickening of long bone diaphyses Increased bone mineral density Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Hyperostosis Cachexia Abnormality of pelvic girdle bone morphology Easy fatigability Tinnitus Leukopenia Coxa valga Vasculitis Bone pain Abnormality of the vertebral column Diplopia Anorexia Lumbar hyperlordosis Pachygyria Limitation of joint mobility Delayed eruption of teeth Vertigo Delayed puberty Carious teeth Muscular dystrophy Metaphyseal dysplasia Aplasia/Hypoplasia of the radius Aspiration Lower limb pain Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Curly hair Abnormality of the radius Limb pain Chorea Sclerosis of skull base Abnormal diaphysis morphology Poor appetite Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Abnormality of the skull Progressive microcephaly Athetosis Blindness Gastrointestinal hemorrhage Increased susceptibility to fractures Leukoencephalopathy Polydactyly Leukodystrophy Telangiectasia Thin skin Hemiparesis Abnormality of the eye Febrile seizures Nail dysplasia Recurrent fractures Portal hypertension Cirrhosis Abnormality of movement Nail dystrophy Small for gestational age Retinopathy Sparse hair Abnormality of the liver Abnormality of eye movement Stage 5 chronic kidney disease Postaxial polydactyly Thrombocytopenia Hemiplegia Short femoral neck Cortical gyral simplification Tongue thrusting Abnormality of the nervous system Poor eye contact Breathing dysregulation Proptosis Glaucoma Hyperactivity Impaired social interactions Headache Inappropriate laughter Fatigue Renal insufficiency Pathologic fracture Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Esophageal varix Oral leukoplakia Calcinosis Hematochezia Abnormality of the vasculature Late-onset distal muscle weakness



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