Cardiomyopathy, and Psychosis

Diseases related with Cardiomyopathy and Psychosis

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


Top matches:

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

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Other less relevant matches:

Low match SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as scad deficiency|scadh deficiency|acads deficiency|lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency|scadd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match CHOREOACANTHOCYTOSIS


Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

Low match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Psychosis

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Depressivity Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Psychosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Anxiety

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness

Common Symptoms - More than 50% cases


Visual loss

Uncommon Symptoms - Between 30% and 50% cases


Fatigue

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Nystagmus Visual impairment Gait disturbance Global developmental delay Cerebral atrophy Skeletal muscle atrophy Hepatomegaly Hypertension Ataxia Congestive heart failure Pigmentary retinopathy Short stature Kyphosis Peripheral neuropathy Microcephaly Failure to thrive Diabetes mellitus Abdominal pain Hearing impairment Lethargy Growth delay Memory impairment Dysarthria Tremor Myoclonus Blindness Generalized hypotonia Behavioral abnormality Hypertrophic cardiomyopathy Dementia Elevated serum creatine phosphokinase Sensorineural hearing impairment Ventriculomegaly Dysphagia Dystonia Generalized hirsutism Encephalopathy Acne Respiratory distress Diarrhea Involuntary movements Dilated cardiomyopathy Hyperactivity Neurological speech impairment Developmental regression Sleep disturbance Osteoporosis Headache Weight loss Scoliosis Feeding difficulties in infancy Delayed skeletal maturation Ptosis Feeding difficulties Cerebral cortical atrophy Hypertonia

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Hepatosplenomegaly Abnormality of the nervous system Hyporeflexia Aggressive behavior Splenomegaly Areflexia Onychomycosis Telangiectasia of the skin Truncal obesity Hirsutism Generalized hyperpigmentation Edema Progressive external ophthalmoplegia External ophthalmoplegia Ophthalmoplegia Acidosis Vomiting Delayed speech and language development Aseptic necrosis Bipolar affective disorder Metrorrhagia Adrenal hyperplasia Pituitary adenoma Attention deficit hyperactivity disorder Constipation Generalized tonic-clonic seizures Thick lower lip vermilion Intellectual disability, severe Inguinal hernia Gait ataxia Coarse facial features Erythema Wide mouth Nyctalopia Wide nose Generalized myoclonic seizures Mitral regurgitation Anteverted nares Gingival overgrowth Widely spaced teeth Thickened calvaria Hypertelorism Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Schizophrenia Protruding ear Abnormality of retinal pigmentation Decreased body weight Short neck Abnormality of the skeletal system Malabsorption Muscle fiber atrophy Nausea and vomiting Neurodegeneration Ascites Abnormal bleeding Gliosis Neuronal loss in central nervous system Progressive neurologic deterioration EMG abnormality Self-injurious behavior Personality changes Hypogonadism Hyperreflexia Hypothyroidism Hydronephrosis Apnea Type I diabetes mellitus Sleep apnea Severe sensorineural hearing impairment Stroke-like episode Abnormal facial shape Depressed nasal bridge Motor delay Menorrhagia Mood changes Premature ovarian insufficiency Pain Generalized amyotrophy Exercise intolerance Cardiac arrest Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Limb muscle weakness Abnormality of the liver Abnormality of the eye Pes cavus Lipodystrophy Respiratory insufficiency Autophagic vacuoles Wolff-Parkinson-White syndrome Vacuolated lymphocytes Psychomotor deterioration Mutism Macular degeneration Aspiration Generalized-onset seizure Progressive visual loss Parkinsonism Abnormal cerebellum morphology Confusion Rod-cone dystrophy Cerebellar atrophy Cardiorespiratory arrest Arrhythmia Round face Recurrent skin infections Recurrent fractures Bruising susceptibility Nephrolithiasis Hypokalemia Infertility Venous thrombosis Thin skin Immunodeficiency Progressive night blindness Renal insufficiency Dyspnea Cerebellar hypoplasia Autism Cochlear malformation Edema of the dorsum of hands Vitiligo Cochlear degeneration Paralytic ileus Abnormality of the dentition Abnormal mitochondrial shape Fever Anemia Abnormal cochlea morphology Homonymous hemianopia Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Abnormality of acid-base homeostasis Abnormal mitochondrial morphology Primary adrenal insufficiency Xerostomia Carious teeth Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Ichthyosis Crohn's disease Paresthesia Dysmetria Anal atresia Delayed puberty Hemeralopia Congenital cataract Heart block Arthrogryposis multiplex congenita Pruritus Stroke Abnormality of the pinna Proteinuria Myalgia EEG abnormality Photophobia Jaundice Gastroesophageal reflux Abnormal macular morphology Spotty hypopigmentation Paronychia Retinoschisis Uterine prolapse Coarse hair Abnormality of digit Progressive spasticity Broad hallux Loss of consciousness Emphysema Bilateral intracranial calcifications Cutis marmorata Large hands Abnormality of dental morphology Prominent supraorbital ridges Redundant skin Morphological abnormality of the vestibule of the inner ear Atonic seizures Aplasia/Hypoplasia of the corpus callosum Cutis laxa Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Morphological abnormality of the inner ear Abnormal form of the vertebral bodies Open mouth Cerebellar vermis hypoplasia Dental malocclusion Broad palm Anteriorly placed anus Lumbar kyphosis Premature loss of primary teeth Nephropathy Pseudoepiphyses of the metacarpals Episodic quadriplegia Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Rectal prolapse Spinal canal stenosis Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Polymicrogyria Abnormality of the cerebellar vermis Abnormality of immune system physiology Proximal tubulopathy Abnormality of mitochondrial metabolism Reduced consciousness/confusion Renal tubular dysfunction Gait imbalance Anterior hypopituitarism Distal arthrogryposis Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Ileus Ophthalmoparesis Aortic aneurysm Hemianopia Abnormality of the renal tubule Drowsiness Hemiplegia Aortic dissection Episodic vomiting Atopic dermatitis Motor polyneuropathy Hashimoto thyroiditis Bilateral ptosis Hypercalciuria Hyponatremia Intestinal obstruction Cachexia Pulmonary embolism Thyroiditis Tubulointerstitial nephritis Visual hallucinations Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Increased CSF lactate Visual field defect Tetraplegia Hyperkalemia Cerebral ischemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Decreased nerve conduction velocity Atrioventricular block Polyneuropathy Mitochondrial myopathy Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Auditory hallucinations Posterior subcapsular cataract Increased serum lactate Hemiparesis Migraine Neonatal hypoglycemia Abnormal nerve conduction velocity Sensory impairment Hypoparathyroidism Sudden cardiac death Renal Fanconi syndrome Tubulointerstitial abnormality Muscle cramps Postural instability Coma Psychotic episodes Status epilepticus Hypertrichosis Chronic kidney disease Hypopigmented skin patches Facial diplegia Dysesthesia Growth abnormality Writer's cramp Persistence of primary teeth Easy fatigability Leber optic atrophy Delusions Spontaneous hematomas Hyperkinesis Gastroparesis Goiter Transient ischemic attack Anorexia Abnormality of visual evoked potentials Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Pancreatitis Purpura Hypogonadotrophic hypogonadism Truncal ataxia Clonus Cerebral visual impairment Amaurosis fugax Hallucinations Short metacarpal Spasticity Hypoplasia of the maxilla Organic aciduria Increased body weight Hypotension Osteopenia Obesity Neoplasm Hypoglycemic encephalopathy Ethylmalonic aciduria Episodic metabolic acidosis Nonketotic hypoglycemia U-Shaped upper lip vermilion Decreased plasma carnitine Decreased fetal movement Orthostatic hypotension Aciduria Metabolic acidosis Hepatic steatosis Abnormality of the cerebral white matter Respiratory tract infection Facial palsy Hypoglycemia Intrauterine growth retardation Flexion contracture Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Suicidal ideation Agitation Striae distensae Left ventricular systolic dysfunction Lymphadenopathy Acute hepatic failure Self-mutilation Protruding tongue Abnormality of the thyroid gland Abnormality of vision Drooling Vasculitis Chorea Generalized muscle weakness Sensory neuropathy Dyskinesia Abnormality of movement Subarachnoid hemorrhage Abnormality of eye movement Abnormality of the foot Pallor Elevated hepatic transaminase Primary hypercortisolism Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Increased circulating cortisol level Macular hypopigmentation Myocardial necrosis Tics Oromandibular dystonia Reduced visual acuity Myopia Progressive inability to walk Increased extraneuronal autofluorescent lipopigment Cerebral degeneration Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Concentric hypertrophic cardiomyopathy Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Vegetative state Scarring Tapetoretinal degeneration Undetectable electroretinogram Pendular nystagmus Aspiration pneumonia Progressive encephalopathy Retinal atrophy Mildly elevated creatine phosphokinase Clumsiness Nevus Retinal degeneration Glaucoma Pneumonia Proximal muscle weakness Retinopathy Ventricular preexcitation Neurodevelopmental delay Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Skeletal myopathy Myofibrillar myopathy Myocardial fibrosis Reduced ejection fraction Abnormality of the gastrointestinal tract Hypokinesia Abnormal retinal morphology Back pain Distal amyotrophy Abnormal electroretinogram Ventricular arrhythmia EMG: myopathic abnormalities Cone/cone-rod dystrophy Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Decreased liver function Palpitations Cardiomegaly Chest pain Distal sensory impairment Acanthocytosis Orofacial dyskinesia Hypodontia Visceromegaly Aspartylglucosaminuria Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Abnormality of the ovary High palate Spondylolisthesis Broad face Macroorchidism Beaking of vertebral bodies Dysostosis multiplex Palpebral edema Muscle fibrillation Pathologic fracture Emotional lability Intellectual disability, progressive Hoarse voice Hydrops fetalis Strabismus Epicanthus Overgrowth Pectus carinatum Delayed eruption of teeth Single transverse palmar crease Tapered finger Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Thick eyebrow Joint hypermobility Joint hyperflexibility Severe global developmental delay Hyperlordosis Brachydactyly Telecanthus Pes planus Kyphoscoliosis Macrotia Mandibular prognathia Pectus excavatum Intellectual disability, mild Hydrocephalus Hypoplasia of the corpus callosum Frontal bossing Downslanted palpebral fissures Macrocephaly Chronic diarrhea Macroglossia Disinhibition Square-wave jerks Abnormality of the urinary system Anosmia Leukoencephalopathy Hypergonadotropic hypogonadism Dehydration Vesicoureteral reflux Rigidity Respiratory failure Thrombocytopenia Dilatation Self-mutilation of tongue and lips due to involuntary movements Subcortical dementia Hydroureter Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Phonic tics Caudate atrophy Distal upper limb muscle weakness Abnormal erythrocyte morphology Difficulty in tongue movements Abetalipoproteinemia Abnormal urinary color Dysgraphia Diabetes insipidus Blurred vision Neutropenia Central sleep apnea Platyspondyly Joint laxity High forehead Brachycephaly Hernia Abnormality of metabolism/homeostasis Recurrent infections Long philtrum Limited mobility of proximal interphalangeal joint Impaired collagen-induced platelet aggregation Diffuse leukoencephalopathy Gastric ulcer Polyphagia Abnormal glucose tolerance Sideroblastic anemia Pollakisuria Respiratory arrest Central diabetes insipidus Histiocytosis Testicular atrophy Neurogenic bladder Central apnea Megaloblastic anemia Dyschromatopsia Atrophy/Degeneration affecting the brainstem Prominent ear helix



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