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.
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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
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
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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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
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
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
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
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
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
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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