Intellectual disability, severe, and Urinary incontinence

Diseases related with Intellectual disability, severe and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Urinary incontinence that can help you solving undiagnosed cases.

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Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Other less relevant matches:

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

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

Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48 Is also known as spg48

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to Partington syndrome (OMIM ) (Kato et al., 2004; Wallerstein et al., 2008).

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX Is also known as mrx32|mrx38|mental retardation, x-linked 76|mental retardation, x-linked 38|mental retardation, x-linked 29|mrx54|mrx76|mental retardation, x-linked 32|mrx43|mrx29|mental retardation, x-linked 54|mental retardation, x-linked 33|mrx33|mental retardation, x

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Urinary incontinence

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Urinary incontinence. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Scoliosis Bowel incontinence Hearing impairment Macrotia Hyperreflexia Nystagmus Cerebral cortical atrophy Cognitive impairment Delayed speech and language development Gait disturbance Autism Mandibular prognathia Behavioral abnormality Babinski sign Developmental regression Skeletal muscle atrophy Dysarthria Long face Spasticity Neurological speech impairment Pectus excavatum Depressivity Ventriculomegaly Broad-based gait Dystonia Intellectual disability, mild Absent speech Gait ataxia Feeding difficulties Mental deterioration Gastroesophageal reflux Dementia Flexion contracture Feeding difficulties in infancy Narrow face Abnormality of the foot Psychosis Involuntary movements Chronic otitis media Malar flattening Macrocephaly Midface retrusion Obesity Coarse facial features Pes planus Neonatal hypotonia Muscle weakness Abnormal facial shape Spastic paraplegia Recurrent respiratory infections Autistic behavior Paraplegia Growth delay Strabismus

Rare Symptoms - Less than 30% cases

Failure to thrive Cataract Visual impairment Rotary nystagmus Hyporeflexia Spastic gait CNS hypomyelination Muscle stiffness Tremor Leukodystrophy Upslanted palpebral fissure Abnormality of the pinna Protruding ear Joint stiffness Abnormality of movement Tetraplegia Choreoathetosis Spastic tetraplegia Facial asymmetry Respiratory insufficiency Myoclonus Hypertelorism Aggressive behavior Anxiety Otitis media Frontal bossing Talipes equinovarus Hernia Cerebral dysmyelination Broad forehead Abnormality of the cerebral white matter Lower limb spasticity Highly arched eyebrow Macroglossia Kyphosis Hydrocephalus Optic atrophy Peripheral neuropathy Short stature Self-injurious behavior Apathy Pancytopenia Retinal degeneration Confusion Lower limb muscle weakness Retinopathy Arthritis High forehead Dysmetria Renal insufficiency Joint hypermobility Macroorchidism Motor delay Severe global developmental delay Drooling Intellectual disability, progressive Clonus Stereotypy Open mouth Sleep disturbance Thick eyebrow Unsteady gait Poor speech Dysphagia Cachexia Pain Aphasia Dysphasia Generalized-onset seizure Epileptic encephalopathy Progressive cerebellar ataxia Attention deficit hyperactivity disorder Intellectual disability, moderate Hyperactivity Encephalopathy Hyperkinesis Cerebellar atrophy Bowing of the legs Single transverse palmar crease Progressive joint destruction Synovial hypertrophy Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs Hypoplasia of the corpus callosum Elevated serum creatine phosphokinase Renal cyst Delayed eruption of teeth Limb dystonia Bronchitis Abnormality of the helix Everted lower lip vermilion Downturned corners of mouth Flat face Pulmonic stenosis Synophrys Parkinsonism Progressive spastic paraplegia Abnormality of dental structure Vesicoureteral reflux Hydronephrosis Natal tooth Abnormal myelination Advanced eruption of teeth Abnormal renal morphology Thickened helices Self-mutilation Pulmonary artery stenosis Tracheomalacia Protruding tongue Supernumerary nipple Limitation of joint mobility Impulsivity Obsessive-compulsive behavior Pyloric stenosis Tented upper lip vermilion Bicuspid aortic valve Coarctation of aorta Hypoplasia of penis Tetralogy of Fallot Abnormal cardiac septum morphology Dyspnea Bronchomalacia Encopresis Dysostosis multiplex Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Long palpebral fissure Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Oppositional defiant disorder Cryptorchidism Periventricular gray matter heterotopia Abnormal head movements Impaired smooth pursuit Delusions Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Hydrocele testis Infantile spasms Micropenis Short nose Brachycephaly Agenesis of corpus callosum Constipation Abnormality of the periventricular white matter Abnormal heart morphology Arrhythmia Hypospadias Urinary bladder sphincter dysfunction Anteverted nares Lissencephaly Abnormality of the cervical spine Reduced ejection fraction Aseptic necrosis Ventricular septal defect Brachydactyly Hyperintensity of cerebral white matter on MRI Thick lower lip vermilion Severe sensorineural hearing impairment Persistence of primary teeth U-Shaped upper lip vermilion Flat occiput Abnormality of the sternum Depressed nasal ridge Type II diabetes mellitus Optic disc pallor Femoral bowing Retinal thinning Thoracolumbar kyphosis Peripheral demyelination Hip dysplasia Decreased antibody level in blood Progressive neurologic deterioration Synostosis of joints Oligosacchariduria Abnormal echocardiogram Dental malocclusion Spondylolysis Delayed myelination Increased vertebral height Synovitis Hypertrichosis Long ear Neurodegeneration Recurrent bacterial infections Vacuolated lymphocytes Open bite Heart murmur Cranial hyperostosis Prominent supraorbital ridges Increased intracranial pressure Abnormality of the gingiva Widely spaced teeth Narrow palate Bowing of the long bones Low anterior hairline Neurodevelopmental delay Hallucinations Limb ataxia Gingival overgrowth Enuresis Amblyopia Tall stature Gliosis Abnormal cornea morphology Conotruncal defect Short neck Cerebral atrophy Immunodeficiency Splenomegaly Abnormality of the dentition Abnormality of joint mobility Antineutrophil antibody positivity Myopathy Patellar dislocation Abnormality of the skeletal system Areflexia Myopia Hepatomegaly Epicanthus Depressed nasal bridge Sensorineural hearing impairment Spondylolisthesis Tracheobronchomalacia Exaggerated cupid's bow Recurrent infections Inguinal hernia Thickened calvaria Hepatosplenomegaly Genu valgum Increased hepatic glycogen content Hypermetropia Abnormality of the rib cage Generalized abnormality of skin Corneal opacity Pectus carinatum Respiratory tract infection Decreased pulmonary function Delayed skeletal maturation Umbilical hernia Hypoplastic inferior ilia Skeletal dysplasia Abnormality of the ilium Osteopenia Craniofacial hyperostosis Kyphoscoliosis Prominent forehead Hyperextensibility of the finger joints Thyroglossal cyst Large forehead Interphalangeal joint contracture of finger Biparietal narrowing Generalized amyotrophy Hallux valgus Myopathic facies Athetosis Poor head control Type I diabetes mellitus Bilateral single transverse palmar creases Narrow forehead Central hypotonia Cerebral calcification Increased serum lactate Generalized muscle weakness Inability to walk Camptodactyly of finger Irritability Abnormality of the nervous system Hypothyroidism Proptosis Hyperactive deep tendon reflexes Hypoplasia of the zygomatic bone Loss of ability to walk in first decade Congestive heart failure Lethargy Hip dislocation Proteinuria Difficulty walking Acidosis Reduced visual acuity Weight loss Thrombocytopenia Hypertension Abnormality of the neck Anemia Low-set ears Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Hypoplasia of the musculature Delayed CNS myelination Ptosis Photosensitive tonic-clonic seizures Malabsorption Epileptic spasms Abnormality of the eye Deeply set eye Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Language impairment Ophthalmoplegia Dysdiadochokinesis Hemiparesis Status epilepticus Apraxia Febrile seizures Focal-onset seizure Generalized myoclonic seizures Polymicrogyria EEG abnormality Arthrogryposis multiplex congenita Narrow chest Conspicuously happy disposition Abnormality of the thorax Inappropriate laughter Happy demeanor Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Slender finger Long nose Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Adducted thumb Abnormality of eye movement Mutism Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Truncal ataxia Postnatal microcephaly Decreased body weight Intellectual disability, profound Neuronal loss in central nervous system Joint hyperflexibility Congenital cataract Smooth philtrum Poor eye contact Progressive spasticity Head titubation Macrogyria Progressive spastic quadriplegia Scanning speech Psychomotor deterioration Arteriovenous malformation Head tremor Abnormality of visual evoked potentials Spastic diplegia Congenital laryngeal stridor Stridor Spinal muscular atrophy Failure to thrive in infancy Abnormality of the urinary system Cerebral palsy Increased body weight Clumsiness Premature birth Chorea Sudanophilic leukodystrophy Diffuse cerebral sclerosis Paralysis Heterotopia Broad palm Polyphagia Abnormality of neuronal migration Large hands Premature ovarian insufficiency Relative macrocephaly Sinusitis Hyperpigmentation of the skin Mitral valve prolapse Reduction of oligodendroglia Overgrowth Round face Postural instability Thick vermilion border Wide mouth Joint laxity Dilatation Atrial septal defect High palate Abnormal pyramidal sign Cystathioninemia Paresthesia Abnormality of extrapyramidal motor function Ectopia lentis Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Pulmonary arterial hypertension Pigmentary retinopathy Thromboembolism Memory impairment Aciduria Neutropenia Metabolic acidosis Hepatic steatosis Hematuria Nephropathy Hemolytic anemia Abnormality of skin pigmentation Disproportionate tall stature Megaloblastic anemia Diffuse hepatic steatosis Delirium Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Abnormality of macular pigmentation Cor pulmonale Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Periorbital fullness


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