Congestive heart failure, and Kyphoscoliosis

Diseases related with Congestive heart failure and Kyphoscoliosis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Kyphoscoliosis that can help you solving undiagnosed cases.


Top matches:

Medium match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Medium match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

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Other less relevant matches:

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Medium match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Kyphoscoliosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Kyphoscoliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Talipes equinovarus Flexion contracture Muscle weakness Pes planus Motor delay Cardiomyopathy Short stature Low-set ears Hyperlordosis Respiratory distress Hearing impairment Mitral valve prolapse Inguinal hernia Abnormality of cardiovascular system morphology Depressed nasal bridge Seizures Respiratory failure Glaucoma Growth delay Micrognathia Pectus excavatum Pectus carinatum Cardiomegaly Pain Cryptorchidism Abnormality of the skeletal system Anteverted nares Short neck Dilatation Aortic root aneurysm Congenital diaphragmatic hernia Spina bifida occulta Abnormal heart morphology Visual impairment Ptosis Osteoporosis Strabismus Fatigue Overgrowth Arrhythmia Mitral regurgitation Esotropia Hypertrophic cardiomyopathy Chest pain Downslanted palpebral fissures Osteopenia Left ventricular hypertrophy Prominent forehead Cleft palate Peripheral neuropathy Hypertelorism Myopathy Talipes Arachnodactyly Restrictive ventilatory defect Scapular winging Muscular hypotonia Abnormal lung morphology Joint laxity Edema Spasticity

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Unsteady gait Proptosis Dental crowding Difficulty walking Progressive cerebellar ataxia Abnormal cerebellum morphology Deeply set eye Camptodactyly Peripheral axonal neuropathy Dilated cardiomyopathy Stroke Abnormally large globe Apnea Genu valgum Abnormality of movement Abnormality of eye movement Areflexia Optic disc pallor Limb muscle weakness Abnormal pyramidal sign Pallor Proximal muscle weakness Myalgia Babinski sign Pes cavus Abnormality of the foot Brachycephaly Ventricular hypertrophy Aortic valve stenosis Sensorineural hearing impairment Hydrocephalus Hypertropia Epicanthus Polyneuropathy Retinal detachment Abnormal facial shape Mandibular prognathia Neonatal hypotonia Protruding ear Blue sclerae Pulmonic stenosis Webbed neck Atrial fibrillation Subvalvular aortic stenosis Depressivity Hyposmia Heart block Joint hypermobility Optic neuropathy Hammertoe Incoordination Elbow flexion contracture High palate Wide nasal bridge Insulin resistance Ventricular septal defect Amblyopia Dolichocephaly Retinopathy Visual loss Disproportionate tall stature Dystonia Slender finger Wide anterior fontanel Spina bifida Aortic dissection Broad forehead Camptodactyly of finger Cerebellar atrophy Metatarsus adductus Hypospadias Joint dislocation Atrial septal defect Double outlet right ventricle Aortic regurgitation Macrocephaly Intrauterine growth retardation Hyperextensible skin Aortic aneurysm Congenital glaucoma Heart murmur Megalocornea Genu recurvatum Dural ectasia Umbilical hernia Meningocele Dental malocclusion Optic atrophy Nystagmus Ataxia Gait disturbance Single transverse palmar crease Tall stature Dysphagia Blindness Falls Myopia Dilatation of the cerebral artery Cataract Obstructive sleep apnea Torticollis Hypoplasia of the iris Spondylolisthesis Arachnoid cyst Striae distensae Subarachnoid hemorrhage Pulmonary edema Low back pain Homocystinuria Thoracic kyphosis Pneumothorax Corneal dystrophy High myopia Atrophic scars Abnormality of the hip bone Protrusio acetabuli Tricuspid valve prolapse Decreased fetal movement Endocarditis Clinodactyly Gastroesophageal reflux Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Intracranial hemorrhage Hypoplasia of the musculature Malar flattening Reduced subcutaneous adipose tissue Abnormality of the sternum Open bite Decreased muscle mass Recurrent pneumonia Increased body weight Bladder diverticulum Subcutaneous hemorrhage Decreased body weight Thin skin Lens luxation Decreased pulmonary function Thoracic kyphoscoliosis Keloids Arterial rupture Moderate myopia Abnormality of the cardiovascular system Arterial dissection Palmoplantar cutis laxa Premature rupture of membranes Wrist drop High, narrow palate Long face Generalized joint laxity Exotropia Joint contracture of the hand Ectopia lentis Emphysema Keratoconus Large for gestational age Progressive congenital scoliosis Rocker bottom foot Hyperbilirubinemia Epiphora Congenital contracture Redundant skin Molluscoid pseudotumors Back pain Spontaneous rupture of the globe Sleep apnea Narrow palate Spontaneous abortion Soft skin Atypical scarring of skin Narrow face Retrognathia Bilateral talipes equinovarus Premature osteoarthritis Febrile seizures Generalized myoclonic seizures Gliosis Brain atrophy Premature birth Migraine Increased serum lactate Cyanosis Metabolic acidosis Pigmentary retinopathy Coarctation of aorta Leukodystrophy Aspiration Cardiac arrest Horizontal nystagmus Coma Hepatic steatosis Pancreatitis Feeding difficulties in infancy Myoclonus Acidosis Hypoglycemia Muscular hypotonia of the trunk Abnormality of the eye Mental deterioration Developmental regression Dyskinesia Irritability Abnormality of the liver Severe global developmental delay Lethargy Stage 5 chronic kidney disease Lactic acidosis Hepatic failure Exercise intolerance Shock Pneumonia Infantile encephalopathy Cerebral edema Acute pancreatitis Stiff neck Decreased activity of mitochondrial respiratory chain Axial dystonia Biventricular hypertrophy Macrovesicular hepatic steatosis Corpus callosum atrophy Cardiogenic shock Progressive macrocephaly Necrotizing encephalopathy Congenital lactic acidosis Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Severe lactic acidosis Wolff-Parkinson-White syndrome Leukoencephalopathy Poor eye contact Ragged-red muscle fibers Oral-pharyngeal dysphagia Adrenal insufficiency Global brain atrophy Pericardial effusion Progressive spasticity Weak cry Increased CSF lactate Basal ganglia calcification Renal tubular acidosis Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Aspiration pneumonia Nemaline bodies Agenesis of corpus callosum Hyporeflexia Hypopnea Short metacarpal Hip dislocation Hypermetropia Narrow chest Flat face Thick eyebrow Recurrent fractures Microdontia Abnormal cardiac septum morphology Low posterior hairline Rhizomelia Lymphedema Meningitis Microretrognathia Accelerated skeletal maturation Microtia Narrow mouth Cutis laxa Increased axial length of the globe Flat cornea Microspherophakia Cystic medial necrosis Spontaneous pneumothorax Overjet Anisometropia Incisional hernia Delayed skeletal maturation Pulmonary artery dilatation Mitral annular calcification Medial rotation of the medial malleolus Inferior oblique muscle overaction Fever Frontal bossing Midface retrusion Sandal gap Bicuspid aortic valve Patent ductus arteriosus Anemia Prominent antitragus Spatulate thumbs Broad distal phalanges of all fingers Metacarpophalangeal joint hyperextensibility Bilateral elbow dislocations Failure to thrive Feeding difficulties Accessory carpal bones Hyperreflexia Hepatomegaly Skeletal muscle atrophy Vomiting Renal insufficiency Encephalopathy Enlarged metaphyses Shoulder dislocation Patent foramen ovale 11 pairs of ribs Radioulnar synostosis Spondyloepiphyseal dysplasia Thoracic hypoplasia Narrow nasal bridge Upper limb undergrowth Overlapping fingers Generalized osteoporosis Multiple joint dislocation Small face Deep palmar crease Endocardial fibroelastosis Abnormality of the abdominal wall Lumbar scoliosis Knee dislocation Talipes equinovalgus Oligohydramnios Short philtrum Gastrointestinal hemorrhage Tachycardia Limb ataxia Lower limb spasticity Involuntary movements Clumsiness Palpitations Intention tremor Peripheral demyelination Sensory impairment Chorea Neurodegeneration Sensory neuropathy Inability to walk Vertigo Truncal ataxia Dysmetria Lower limb muscle weakness Reduced visual acuity Gait ataxia Hyperactivity Diabetes mellitus Dysarthria Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Abnormality of the intervertebral disk Spastic gait Muscle stiffness Abnormality of female internal genitalia Abnormality of visual evoked potentials Poor fine motor coordination T-wave inversion Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Ketosis Abnormal EKG Paraparesis Thoracic scoliosis Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Impaired vibratory sensation Dysdiadochokinesis Cachexia Slurred speech Ventricular arrhythmia Reduced tendon reflexes Spastic paraparesis Urogenital fistula Anomalous pulmonary venous return Lower limb amyotrophy Muscle cramps Achilles tendon contracture Shoulder girdle muscle weakness Difficulty running Vertebral fusion Difficulty climbing stairs Calf muscle hypertrophy Toe walking Congenital muscular dystrophy Limb-girdle muscular dystrophy Frequent falls Waddling gait Macroglossia Muscular dystrophy Restrictive deficit on pulmonary function testing Elevated serum creatine phosphokinase Sclerotic vertebral endplates Contractures of the large joints Venous insufficiency Atrial flutter Abnormality of the thumb Macroorchidism Multiple joint contractures Intellectual disability, profound Spastic tetraplegia Tetraplegia Macrotia Absent speech Left ventricular failure Pelvic girdle muscle weakness Rib fusion Confusion Disproportionate short-trunk short stature Abnormality of the ureter Abnormality of immune system physiology Vertebral segmentation defect Prominent occiput Short thorax Preaxial polydactyly Abnormality of the urinary system Hemivertebrae Abnormal vertebral morphology Abnormal form of the vertebral bodies Abnormality of the ribs Finger syndactyly Diaphragmatic weakness Respiratory tract infection Low-set, posteriorly rotated ears Polydactyly Severe short stature Recurrent respiratory infections Long philtrum Microcephaly Reduced muscle fiber merosin Reduced muscle fiber alpha dystroglycan Thigh hypertrophy Abnormality of the Achilles tendon Exercise-induced myoglobinuria Nocturnal hypoventilation Abnormal echocardiogram Positive Romberg sign Sepsis Thick vermilion border Short chin Wormian bones Gynecomastia Gingival overgrowth Short phalanx of finger Thickened skin Bowing of the long bones Interphalangeal joint contracture of finger Hip dysplasia Full cheeks Broad nasal tip Delayed eruption of teeth Hirsutism Abnormality of the metacarpal bones Short palm Thin vermilion border Smooth philtrum Corneal opacity Wide mouth Joint stiffness Abnormality of the pinna Coarse facial features Skeletal dysplasia High forehead Clinodactyly of the 5th finger Intellectual disability, severe Brachydactyly Osteolysis Short long bone Coronary artery aneurysm Hyperplasia of the maxilla Abnormal bleeding Generalized muscle weakness Microcornea Bruising susceptibility Joint hyperflexibility Abnormality of metabolism/homeostasis Anterior concavity of thoracic vertebrae Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Broad alveolar ridges Cholelithiasis Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Concave nasal ridge Beaking of vertebral bodies Premature loss of teeth Aseptic necrosis Delayed cranial suture closure Flared metaphysis Tricuspid regurgitation Flat occiput Acne Aplasia of the ovary Numerous nevi Abnormality of cardiovascular system physiology Cervical spinal cord atrophy Delayed speech and language development Neoplasm Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Muscular subvalvular aortic stenosis Intellectual disability, mild Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Hypertension Alopecia Hypoplasia of the ovary Bilateral cryptorchidism Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Abnormal aortic valve morphology Abnormal mitral valve morphology Angina pectoris Missing ribs Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Unilateral renal agenesis Posteriorly rotated ears Cubitus valgus Pterygium Mutism Cafe-au-lait spot Abnormality of the genital system Depressed nasal ridge Myocardial infarction Syncope Triangular face Delayed puberty Conductive hearing impairment Micropenis Hyperkeratosis Exercise-induced lactic acidemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Kyphosis, related diseases and genetic alterations Neuroblastoma and Pes cavus, related diseases and genetic alterations

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