Cardiomyopathy, and Schizophrenia

Diseases related with Cardiomyopathy and Schizophrenia

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

Top matches:

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

Medium 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

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Other less relevant matches:

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Atrial septal defect
  • Autism


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Schizophrenia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Behavioral abnormality

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Scoliosis Cognitive impairment Short stature Macrocephaly Failure to thrive Growth delay Neurological speech impairment Attention deficit hyperactivity disorder Cataract Microcephaly Joint hyperflexibility Depressivity Inguinal hernia Anxiety Pectus excavatum Intellectual disability, mild Hypertonia Psychosis Autistic behavior Gait disturbance Protruding ear High palate Frontal bossing Intrauterine growth retardation Strabismus Sensorineural hearing impairment Atrial septal defect Cryptorchidism Mitral valve prolapse Stroke Developmental regression Open mouth Obsessive-compulsive behavior Glaucoma Abnormality of the dentition Feeding difficulties Gastroesophageal reflux Hyperreflexia Dysarthria Tremor Aggressive behavior Osteoporosis Intellectual disability, moderate Joint laxity Ataxia Spasticity Cerebral cortical atrophy Mental deterioration Hearing impairment Kyphoscoliosis Hypertelorism Hydrocephalus Hyperactivity Feeding difficulties in infancy Abnormal facial shape Hallucinations Epicanthus Sleep disturbance Delayed skeletal maturation Kyphosis Congestive heart failure

Rare Symptoms - Less than 30% cases

Dilatation Specific learning disability Respiratory distress Myopathy Gingival overgrowth Renal insufficiency Anorexia Dysphonia Dystonia Pancreatitis Hypogonadotrophic hypogonadism Ptosis Cleft palate Micrognathia Dental crowding Aortic aneurysm Hemiplegia Pain Anemia Dysphagia Hypercalciuria Visual impairment Hepatomegaly Ischemic stroke Pulmonary embolism Constipation Arachnodactyly Elevated serum creatine phosphokinase Transient ischemic attack Involuntary movements Generalized tonic-clonic seizures Hip dysplasia Cerebral ischemia Talipes equinovarus Sudden cardiac death Gait imbalance Postural instability Vesicoureteral reflux High hypermetropia Disproportionate tall stature Malabsorption Nausea and vomiting Carious teeth Ophthalmoplegia Arthrogryposis multiplex congenita Abnormality of the cardiovascular system Cerebellar hypoplasia Tubulointerstitial nephritis Type II diabetes mellitus Ventricular hypertrophy Hypertrophic cardiomyopathy Proteinuria Tubulointerstitial abnormality Jaundice Hypothyroidism Abnormality of the voice Abdominal pain Hemiparesis Diabetes mellitus Myoclonus Dementia Dysmetria Hypertension Flexion contracture Decreased body weight Coarctation of aorta Hypodontia Hypoplasia of the maxilla Tetraplegia Dental malocclusion Thick lower lip vermilion Abnormal form of the vertebral bodies Mitral regurgitation Abnormality of retinal pigmentation Everted lower lip vermilion Paralysis Cutis laxa Widely spaced teeth Aplasia/Hypoplasia of the corpus callosum Myocardial infarction Redundant skin Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Cataplexy Thick vermilion border Abnormality of neuronal migration Hypoplasia of the corpus callosum Muscle weakness Depressed nasal bridge Peripheral neuropathy Brachydactyly Skeletal muscle atrophy Optic atrophy Abnormality of the skeletal system Ventriculomegaly Joint hypermobility Macrotia Coarse facial features Pes planus Hyperlordosis Wide mouth Pectus carinatum Tetralogy of Fallot Dilated cardiomyopathy Cutis marmorata Abnormal cardiac septum morphology Narrow face Rectal prolapse Clinodactyly of the 5th finger Soft skin Long philtrum Patent ductus arteriosus High forehead Broad thumb Delayed speech and language development Loss of consciousness Wide nasal bridge Ventricular septal defect Myopia Broad hallux Agenesis of corpus callosum Enuresis Abnormality of the cerebral vasculature Renal agenesis Villous atrophy Dyslexia Abnormality of refraction Progressive hearing impairment Failure to thrive in infancy Abnormality of the neck Abnormality of the fingernails Microdontia Abnormality of dental enamel Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Nephrocalcinosis Dehydration Hemivertebrae Vocal cord paralysis Large earlobe Peripheral pulmonary artery stenosis Periorbital fullness Abnormality of nervous system morphology Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Dysgraphia Otitis media Arterial stenosis Periorbital edema Peptic ulcer Cystic renal dysplasia Spina bifida occulta Bladder diverticulum Lacrimation abnormality Abnormal dermatoglyphics Abnormal renal morphology Subvalvular aortic stenosis Abnormality of the ankles Decreased plasma carnitine Bicuspid aortic valve Patellar dislocation Pointed chin Amblyopia Open bite Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Arnold-Chiari malformation Reduced bone mineral density Adducted thumb Unilateral renal agenesis Aortic valve stenosis Renal hypoplasia Small nail Infantile muscular hypotonia Chronic otitis media Nephritis Abnormality of pelvic girdle bone morphology Incoordination Portal hypertension Recurrent otitis media Precocious puberty Polycystic ovaries Recurrent urinary tract infections Nephrolithiasis Radioulnar synostosis Cholelithiasis Hypsarrhythmia Hallux valgus Down-sloping shoulders Abnormality of lipid metabolism Multiple renal cysts Increased body weight Hypercalcemia Narrow forehead Abnormality of the vasculature Pulmonary artery stenosis Hypotelorism Poor coordination Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Megalocornea Cardiomegaly Insomnia Sacral dimple Restlessness Facial cleft Prematurely aged appearance Increased bone mineral density Hypoplasia of penis Celiac disease Vertebral segmentation defect Abnormality of extrapyramidal motor function Premature graying of hair Hoarse voice Vascular tortuosity Cirrhosis Overriding aorta Precocious atherosclerosis Atherosclerosis Brittle hair Ectopia lentis Thromboembolism Peripheral arterial stenosis Generalized osteoporosis Cerebral edema Tall stature Homocystinuria Biconcave vertebral bodies Personality disorder Hypermethioninemia Bipolar affective disorder Low-set ears Aspiration Limitation of joint mobility Brachycephaly Congenital thrombocytopenia Visceromegaly Vertical supranuclear gaze palsy Supranuclear ophthalmoplegia Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Sea-blue histiocytosis Hypopigmentation of the skin Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Fatal liver failure in infancy Edema Hepatic steatosis Retinal detachment Prominent forehead Thin upper lip vermilion Aplasia/Hypoplasia of the abdominal wall musculature Bulbous nose Cat cry Abnormally folded helix Microphthalmia Deeply set eye Hydronephrosis Toe syndactyly Iris coloboma Low frustration tolerance Short foot Hand polydactyly Transposition of the great arteries Foot polydactyly Truncus arteriosus Broad hallux phalanx Interrupted aortic arch Oppositional defiant disorder Velopharyngeal insufficiency Camptodactyly of finger Nasal speech Short philtrum Prominent nasal bridge Long face Short chin Abnormality of the genitourinary system Deep philtrum Emotional lability Ascending tubular aorta aneurysm Long nose Narrow nasal bridge Slender finger Aortic root aneurysm Macroorchidism Abnormality of the rib cage Impaired social interactions Foam cells Spastic dysarthria Aortic arch aneurysm Bilateral vocal cord paralysis Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Thyroid hemiagenesis Calcification of the aorta Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Unilateral renal hypoplasia Impaired visuospatial constructive cognition Vocal cord dysfunction Retinal arteriolar tortuosity Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Hyperacusis Supravalvular aortic stenosis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Descending aorta hypoplasia Atrophy/Degeneration involving the corticospinal tracts Supranuclear gaze palsy Intention tremor Ascites Chorea Neuronal loss in central nervous system Oligohydramnios Spastic tetraplegia Intellectual disability, profound Progressive neurologic deterioration Bruising susceptibility Clumsiness Athetosis Prolonged neonatal jaundice Neurofibrillary tangles Loss of speech Trismus Head tremor Neurodegeneration Retinal degeneration Stereotypy Splenomegaly Preeclampsia Intraventricular hemorrhage Hypospadias Hip dislocation Relative macrocephaly Constrictive median neuropathy Thrombocytopenia Abnormality of movement Pneumonia Hepatosplenomegaly Neonatal hypotonia Abnormality of the nervous system Abnormal pyramidal sign Skin rash Abnormality of the cerebral white matter Esotropia Writer's cramp Chest pain Apnea Peripheral axonal neuropathy Vertigo Ichthyosis Confusion Paresthesia Anal atresia Delayed puberty Congenital cataract Lethargy Pruritus Nyctalopia Abnormality of the liver Erythema Abnormality of the pinna Myalgia Nausea EEG abnormality Photophobia Acidosis Dyspnea Weight loss Gait ataxia Hypogonadism Rod-cone dystrophy Hyporeflexia Areflexia Arrhythmia Visual loss Encephalopathy Cerebral atrophy Lactic acidosis Polymicrogyria Diarrhea Pulmonary arterial hypertension Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Left ventricular hypertrophy Hypertrichosis Atrial fibrillation Status epilepticus Nephrotic syndrome Hirsutism Sensory impairment Nephropathy Polyneuropathy Coma Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Migraine Bilateral sensorineural hearing impairment Increased serum lactate Memory impairment Amenorrhea Cerebral calcification Pigmentary retinopathy Generalized-onset seizure Headache Vomiting Reduced tendon reflexes Abnormality of the hair Anteriorly placed anus Atonic seizures Thickened calvaria Broad palm Abnormality of digit Progressive spasticity Emphysema Large hands Self-injurious behavior Prominent supraorbital ridges Coarse hair Sleep apnea Narrow palate Coxa valga Wide anterior fontanel Severe sensorineural hearing impairment Thick eyebrow Downslanted palpebral fissures Anteverted nares Intellectual disability, severe Mandibular prognathia Telecanthus Severe global developmental delay Short distal phalanx of finger Cerebellar vermis hypoplasia Wide nose Highly arched eyebrow Tapered finger Single transverse palmar crease Delayed eruption of teeth Short metacarpal Spinal canal stenosis Acrocyanosis Cerebellar atrophy Pseudoepiphyses of the metacarpals Blindness Short neck Respiratory insufficiency Fatigue Fever Motor delay Nystagmus Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Stooped posture Hypoplastic fingernail Advanced eruption of teeth Restrictive cardiomyopathy Abnormal mitral valve morphology Craniofacial hyperostosis Delayed closure of the anterior fontanelle Abnormal aortic valve morphology Myelopathy Hyperextensibility of the finger joints Hyperconvex fingernails Premature loss of primary teeth Abnormal diaphysis morphology Thick nasal alae Narrow iliac wings Broad finger Abnormal tricuspid valve morphology External ophthalmoplegia Ragged-red muscle fibers Full cheeks Abnormality of the cerebellar vermis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Psychotic episodes Episodic quadriplegia Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Abnormality of acid-base homeostasis Bilateral intracranial calcifications Ileus Abnormality of the kidney Macroglossia Broad nasal tip Oral cleft Smooth philtrum Genu valgum Pulmonic stenosis Corneal opacity Small for gestational age Broad forehead Scarring Blepharophimosis Craniosynostosis Joint stiffness Irritability Low-set, posteriorly rotated ears Morphological abnormality of the vestibule of the inner ear Hernia Morphological abnormality of the inner ear Prominent ear helix Short nose Malar flattening Midface retrusion Absent speech Obesity Cleft lip Abnormal heart morphology Recurrent respiratory infections Micropenis Osteopenia Arthralgia Umbilical hernia Hemianopia Proximal tubulopathy Hypopigmented skin patches Mask-like facies Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Bifid scrotum Basal ganglia calcification Atrioventricular block Mutism Goiter Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Cachexia Intestinal obstruction Decreased nerve conduction velocity Bilateral ptosis Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Personality changes Glomerulopathy Hyperthyroidism Abnormality of peripheral nerve conduction Delusions Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Posterior subcapsular cataract Rhabdomyolysis Hashimoto thyroiditis Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Distal arthrogryposis Drowsiness Atopic dermatitis Abnormality of visual evoked potentials Progressive external ophthalmoplegia Neonatal hypoglycemia Vitiligo Xerostomia Heart block Hypoparathyroidism Mitochondrial myopathy Ankyloglossia


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