Cardiomyopathy, and Premature birth

Diseases related with Cardiomyopathy and Premature birth

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

Top matches:

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Other less relevant matches:

Medium match ROIFMAN SYNDROME

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Premature birth

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Cardiomegaly Hypertelorism Congestive heart failure Edema Macrocephaly Failure to thrive Cryptorchidism Intrauterine growth retardation Anteverted nares Dysphagia Long philtrum Low-set ears Polyhydramnios Respiratory failure Irritability Depressed nasal bridge Atrial septal defect Proptosis Hypertension High palate Micrognathia Ventricular septal defect Feeding difficulties High, narrow palate Inguinal hernia Vomiting Feeding difficulties in infancy Thin upper lip vermilion Umbilical hernia Agenesis of corpus callosum Wide mouth Pneumonia Splenomegaly Abnormality of the kidney Downslanted palpebral fissures Postnatal growth retardation Redundant skin Pleural effusion Renal insufficiency Sparse hair Abnormal heart morphology Hydrocephalus Ventriculomegaly Hernia Ptosis Strabismus Nystagmus Hearing impairment Astigmatism Abnormality of the dentition Neoplasm Short neck Myopia Scoliosis Neurodevelopmental delay Large for gestational age Melanocytic nevus Relative macrocephaly Wide anterior fontanel Hypoglycemia Coarse facial features Abnormality of cardiovascular system morphology Cerebral cortical atrophy Osteopenia Areflexia Respiratory distress Cataract Skeletal muscle atrophy Motor delay Flexion contracture Microcephaly Arthrogryposis multiplex congenita Ataxia Respiratory insufficiency Cerebellar atrophy Encephalopathy Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Woolly hair Fine hair Hyperextensible skin Acidosis Abnormal mitral valve morphology Deep palmar crease Abnormality of the testis Kyphoscoliosis Multiple cafe-au-lait spots Thick upper lip vermilion Failure to thrive in infancy Arnold-Chiari type I malformation Myopathy Subvalvular aortic stenosis Generalized hyperpigmentation Curly hair Heart murmur Severe muscular hypotonia Decreased fetal movement Optic atrophy Talipes equinovarus Blindness Multiple lentigines Arrhythmia Migraine Nemaline bodies Neuroblastoma Enlarged kidney Neonatal hypoglycemia Rhabdomyosarcoma Abnormality of earlobe Anterior creases of earlobe Muscle weakness Cognitive impairment Anemia Multiple prenatal fractures Kyphosis Brain atrophy Thrombocytopenia Developmental regression Scarring Stroke Hip dislocation Stage 5 chronic kidney disease Abnormality of skin pigmentation Bulbous nose Abnormal cerebellum morphology Gliosis Abnormality of the eye Poor suck Hyperpigmentation of the skin Apnea Delayed speech and language development Pectus excavatum Cerebral atrophy Short nose High forehead Macrotia Dolichocephaly Hypotrichosis Frontal bossing Dysarthria Epicanthus Hydrops fetalis Abnormality of the skeletal system Short chin Sparse eyelashes Pyloric stenosis Sparse eyebrow Absent eyebrow Rocker bottom foot Aplasia/Hypoplasia of the eyebrow Hypoplasia of the frontal lobes Increased nuchal translucency Redundant neck skin Delayed skeletal maturation Posteriorly rotated ears Hemangioma Webbed neck Severe global developmental delay Cutis laxa Narrow palate Hepatic steatosis Lymphedema Cafe-au-lait spot Decreased body weight Coarctation of aorta Aspiration Growth hormone deficiency Nevus Hyperhidrosis Full cheeks Sleep disturbance Thick vermilion border Joint hypermobility Hyporeflexia Pulmonic stenosis Hypermetropia Pectus carinatum Low-set, posteriorly rotated ears Gastroesophageal reflux Hyperkeratosis Peripheral neuropathy Hyperextensibility of the finger joints Long palpebral fissure Leukoencephalopathy Peripheral axonal neuropathy Increased serum lactate Retinal dystrophy Large fontanelles Tachycardia Congenital diaphragmatic hernia Vesicoureteral reflux Macroglossia Pulmonary arterial hypertension Nephropathy Long face Aplasia/Hypoplasia of the corpus callosum Lactic acidosis Hypogonadism Neurological speech impairment Encephalitis Oligohydramnios Hypothyroidism Abnormal aortic valve morphology Clinodactyly of the 5th finger Microretrognathia Abnormal pulmonary valve morphology Immunodeficiency Fatigue Intellectual disability, mild Single transverse palmar crease Autism Short philtrum Eczema Hypospadias Sleep apnea Patent ductus arteriosus Spondyloepiphyseal dysplasia Arnold-Chiari malformation Narrow mouth Intellectual disability, moderate Short toe Limited elbow movement Aggressive behavior Lack of skin elasticity Ichthyosis Hydronephrosis Abnormal palate morphology Asymmetric septal hypertrophy Dry skin Labial hypoplasia Genu valgum Frontal hirsutism Abnormality of the genitourinary system Erythema Ganglioneuroblastoma Systolic heart murmur Abnormality of the cerebral white matter Nail dystrophy Telecanthus Leukemia Optic nerve hypoplasia Delayed gross motor development Respiratory tract infection Pruritus Falls Oculomotor apraxia Dental malocclusion Hemiparesis Myocardial infarction Open mouth Concave nail Low posterior hairline Narrow forehead Abnormality of the cardiovascular system Thickened skin Hypoplasia of teeth Progressive visual loss Pneumothorax Embryonal rhabdomyosarcoma EEG abnormality Inflammatory abnormality of the skin Fasting hypoglycemia Broad femoral neck Deep-set nails Abnormal bleeding Abdominal distention Palmoplantar keratoderma Vestibular Schwannoma Schwannoma Cerebral visual impairment Bruising susceptibility Abnormality of the nail Broad philtrum Intestinal malrotation Depressivity Transitional cell carcinoma of the bladder Hypoplastic facial bones Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Duodenal ulcer Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Ulnar deviation of the wrist Absent sternal ossification Broad secondary alveolar ridge Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Aplasia/Hypoplasia of the nails Short proximal phalanx of hallux Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Body odor Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Postprandial hyperglycemia Bladder neoplasm Abnormal pelvis bone morphology Concentric hypertrophic cardiomyopathy Behavioral abnormality Prominent forehead Alopecia Constipation Fetal distress Hypopnea Shyness Bronchomalacia Central apnea Papilloma Large face Malar flattening Thin nail Deep plantar creases Hypertonia Tapered toe Intellectual disability, severe Hematemesis Melena Triangular mouth Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Abnormal parietal bone morphology Capillary malformation Palmoplantar hyperkeratosis Infantile muscular hypotonia Abnormality of vision Morphological abnormality of the gastrointestinal tract Pes cavus Tricuspid regurgitation Absent speech Enlarged cerebellum Myofiber disarray Oral aversion Multiple plantar creases Reduced subcutaneous adipose tissue Eyelid fasciculation Bilateral microphthalmos Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Puberty and gonadal disorders Hypoplastic toenails Tongue thrusting Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Hyperkeratosis pilaris Vitreomacular adhesion Abnormality of the hairline Rhabdomyolysis Cardiomyocyte hypertrophy Abnormal location of ears Loose anagen hair Keratoconus Macrocephaly at birth Bilateral cryptorchidism Frontal balding Hoarse voice Epidermal acanthosis Thick lower lip vermilion Atrial fibrillation Hypoplasia of dental enamel Long eyelashes Abnormality of the hair Pointed chin Mitral valve prolapse Abnormality of dental enamel Aortic aneurysm Abnormality of the fingernails Acanthosis nigricans Abnormal dermatoglyphics Laryngomalacia Apraxia Hyperglycemia Severe short stature Wide nose Osteoporosis Carcinoma Abnormality of the nervous system Joint laxity Delayed puberty Joint hyperflexibility Hematuria Overgrowth Postural instability Ascites Tetraplegia Sepsis Abnormality of the skin Hip dysplasia Abnormality of the optic disc Endocarditis Verrucae Fragile nails Microscopic hematuria Biparietal narrowing Abnormal heart valve morphology Abnormality of the sternum Infantile spasms Neurofibromas Hydroureter Malnutrition Open bite Obsessive-compulsive behavior Thickened nuchal skin fold Chronic otitis media Tendon rupture Alveolar rhabdomyosarcoma Megalencephaly Obstructive sleep apnea Large earlobe Large forehead Multifocal atrial tachycardia Deep philtrum Brittle hair Thickened Achilles tendon Achilles tendon contracture Progeroid facial appearance Cubitus valgus Barrel-shaped chest Bilateral ptosis Scaling skin Congenital neuroblastoma Lymphangiectasis Ectropion Severe postnatal growth retardation Submucous cleft hard palate Sparse or absent eyelashes Gastrointestinal dysmotility Abnormality of the optic nerve Central hypotonia Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Tracheomalacia Ulnar deviation of finger Abnormal hair pattern Slow-growing hair Thickened helices Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Cavernous hemangioma Dystrophic fingernails Bladder carcinoma Anal stenosis Neonatal sepsis Underdeveloped supraorbital ridges Poor appetite Soft skin Atopic dermatitis Alopecia of scalp Abnormal eyelash morphology Absent eyelashes Choroid plexus papilloma Hypoplasia of the zygomatic bone Premature skin wrinkling Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Syringomyelia Small earlobe Mitochondrial myopathy Premature loss of primary teeth Large placenta Urogenital fistula Facial hemangioma Adrenocortical carcinoma Infra-orbital crease Branchial cyst Posterior helix pit Congenital megaureter Elevated alpha-fetoprotein Abnormality of pancreas morphology Adrenocortical cytomegaly Abnormality of the shape of the midface Large intestinal polyposis Subchorionic septal cyst Fever Diarrhea Leiomyosarcoma Hepatoblastoma Recurrent infections Multiple renal cysts Nephroblastoma Prominent occiput Polycythemia Prominent metopic ridge Exocrine pancreatic insufficiency Nevus flammeus Diastasis recti Choroideremia Hemihypertrophy Gonadoblastoma Visceromegaly Ureteral duplication Otosclerosis Pseudohypoparathyroidism Asymmetric growth Headache Dementia Accelerated skeletal maturation Glomerulosclerosis Atherosclerosis Hyperlipidemia Azoospermia Reduced bone mineral density Coarse hair Chronic kidney disease Epiphyseal dysplasia Bone marrow hypocellularity Glomerulonephritis Nephritis Focal segmental glomerulosclerosis Emphysema High pitched voice Combined immunodeficiency Hypermelanotic macule Opacification of the corneal stroma Lymphopenia Proteinuria Waddling gait Hyperlordosis Autoimmunity Corneal opacity Platyspondyly Malabsorption Neutropenia Lymphoma Decreased testicular size Abnormality of epiphysis morphology Microdontia Nephrotic syndrome Lumbar hyperlordosis Intellectual disability, profound Abnormal lung morphology Abnormal form of the vertebral bodies Heterotopia Hypercalciuria Tall stature Glomerulopathy Retrognathia Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Fractures of the long bones Wide nasal bridge Tremor Neonatal hypotonia Generalized amyotrophy Camptodactyly of finger Small for gestational age Flat face Aciduria Interphalangeal joint contracture of finger Intention tremor Hyperammonemia Axonal loss Increased variability in muscle fiber diameter Moderate global developmental delay Myopathic facies Difficulty walking Facial palsy Ophthalmoplegia Generalized muscle weakness EMG: myopathic abnormalities Abnormality of the thorax Hypokinesia Neonatal respiratory distress Facial diplegia Type 1 muscle fiber predominance Pulmonary hypoplasia Hypohidrosis Patent foramen ovale Congenital contracture Spinal muscular atrophy Flat occiput 3-Methylglutaconic aciduria Nephrolithiasis Biconvex vertebral bodies Pulmonary edema Short digit Humoral immunodeficiency Prominent eyelashes Noncompaction cardiomyopathy Irregular femoral epiphysis Cleft palate Irregular vertebral endplates Midface retrusion Obesity Hyperactivity Mandibular prognathia Poor speech Prominent nose Omphalocele Narrow nose Hip contracture Hyperalaninemia Underdeveloped nasal alae Gastroparesis Brachydactyly Clinodactyly Hepatosplenomegaly Lymphadenopathy Downturned corners of mouth Short metacarpal Recurrent otitis media Partial agenesis of the corpus callosum Sinusitis Meningitis Recurrent pneumonia Finger clinodactyly Narrow palpebral fissure Tachypnea Eosinophilia Steatorrhea Protuberant abdomen Absent nipple Upslanted palpebral fissure Acute necrotizing encephalopathy Exercise-induced lactic acidemia Hypoplasia of the corpus callosum Syndactyly Microphthalmia Cerebellar hypoplasia Micropenis Congenital lactic acidosis Abnormality of the pinna Protruding ear Microtia Toe syndactyly Thin vermilion border Tapered finger Hypopigmentation of the skin Abnormal mitochondria in muscle tissue Necrotizing encephalopathy Dandy-Walker malformation Cerebral edema Cardiorespiratory arrest Aspiration pneumonia Increased CSF lactate Wolff-Parkinson-White syndrome Corpus callosum atrophy Severe lactic acidosis Acute pancreatitis Progressive macrocephaly Stiff neck Decreased activity of mitochondrial respiratory chain Axial dystonia Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Hypodontia Neuronal loss in central nervous system Optic neuropathy Glossoptosis Severe hearing impairment Thin ribs Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the thumb Short clavicles Inverted nipples Severe failure to thrive Absent thumb Sclerocornea Abnormality of finger Hypoplastic labia majora Hypoplastic scapulae Decreased skull ossification Abnormality of the neck Aplasia/Hypoplasia of the nipples Abnormality of digit Short finger Tetralogy of Fallot Short ribs Cerebellar vermis hypoplasia Small nail Sparse scalp hair Pachygyria Short phalanx of finger Short thumb Sparse and thin eyebrow Tented upper lip vermilion Anonychia Abnormality of pelvic girdle bone morphology Abnormality of the urinary system Clitoral hypertrophy Abnormality of dental morphology Short middle phalanx of finger Metatarsus adductus Flared metaphysis Progressive encephalopathy Renal tubular acidosis Abnormality of the vasculature Lateral displacement of the femoral head Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Anterior pituitary dysgenesis Nephrosclerosis Sensorineural hearing impairment Increased thyroid-stimulating hormone level Spasticity Visual impairment Hyperreflexia Dystonia Babinski sign Myoclonus Proximal muscle weakness Encephalomalacia Shallow acetabular fossae Muscular hypotonia of the trunk Villous atrophy Transient ischemic attack Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature B-cell lymphoma Lymphoproliferative disorder Cerebral ischemia Steroid-resistant nephrotic syndrome Precocious atherosclerosis Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Myalgia Mental deterioration Basal ganglia calcification Ragged-red muscle fibers Leukodystrophy Cardiac arrest Horizontal nystagmus Exercise intolerance Pancreatitis Shock Incoordination Ventricular hypertrophy Oral-pharyngeal dysphagia Adrenal insufficiency Global brain atrophy Pericardial effusion Progressive spasticity Poor eye contact Weak cry Left ventricular hypertrophy Optic disc pallor Pallor Talipes Abnormality of the liver Retinopathy Abnormal pyramidal sign Lethargy Limb muscle weakness Abnormality of eye movement Abnormality of movement Hepatic failure Pigmentary retinopathy Dyskinesia Metabolic acidosis Coma Progressive cerebellar ataxia Generalized myoclonic seizures Febrile seizures Cyanosis Increased corneal curvature


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