Hepatomegaly, and Primary amenorrhea

Diseases related with Hepatomegaly and Primary amenorrhea

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


Top matches:

High match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

High match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

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Other less relevant matches:

High match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

High match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

High match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

High match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

High match BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY


Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High match MELAS


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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Primary amenorrhea

Symptoms // Phenotype % cases
Congestive heart failure Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Hypertriglyceridemia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Primary amenorrhea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Myopathy

Uncommon Symptoms - Between 30% and 50% cases


Myalgia

Common Symptoms - More than 50% cases


Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Lipodystrophy

Common Symptoms - More than 50% cases


Lipoatrophy

Uncommon Symptoms - Between 30% and 50% cases


Pancreatitis

Common Symptoms - More than 50% cases


Hepatic steatosis

Uncommon Symptoms - Between 30% and 50% cases


Amenorrhea

Common Symptoms - More than 50% cases


Insulin resistance

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Hypogonadism Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Skeletal muscle hypertrophy Arrhythmia Osteoporosis Polycystic ovaries Secondary amenorrhea Atherosclerosis Acanthosis nigricans Generalized hirsutism Epidermal acanthosis Hirsutism Global developmental delay Short stature Delayed skeletal maturation Prominent superficial veins Ventricular hypertrophy Growth delay Abnormality of skeletal muscle fiber size Reduced subcutaneous adipose tissue Failure to thrive Intellectual disability Azoospermia Muscle weakness Cirrhosis Pain Thin skin Hyperinsulinemia Abdominal pain Elevated hepatic transaminase Flexion contracture Hypogonadotrophic hypogonadism Cataract Ventriculomegaly Growth hormone deficiency Delayed puberty Atrial fibrillation Hypothyroidism Recurrent infections Osteopenia Micrognathia Dilated cardiomyopathy Hyperpigmentation of the skin Anemia Abnormality of the liver Fever Ptosis Decreased HDL cholesterol concentration Sensorineural hearing impairment Constipation Generalized lipodystrophy Glomerulopathy Feeding difficulties Congenital generalized lipodystrophy Vomiting Aplasia/Hypoplasia of the skin Coronary artery atherosclerosis Hyperglycemia Xanthomatosis Myocardial infarction Hypertelorism Hepatosplenomegaly Dilatation Infertility

Rare Symptoms - Less than 30% cases


Increased serum ferritin Cognitive impairment Neoplasm Ataxia Prolonged QTc interval Elevated transferrin saturation Atlantoaxial dislocation Increased serum iron Abnormal levels of creatine kinase in blood Dysphagia Arthropathy Nystagmus Impotence Microcephaly Lethargy Seizures Pulmonary arterial hypertension Scoliosis Adipose tissue loss Nephropathy Renal insufficiency Peripheral neuropathy Arthritis Ileus Fatigue Protruding ear Muscle stiffness Advanced eruption of teeth Bradycardia Palpitations Postnatal growth retardation Increased adipose tissue around the neck Pectus excavatum Exercise intolerance Sudden cardiac death Increased intraabdominal fat Headache Increased facial adipose tissue Skeletal muscle atrophy Abnormality of the skeletal system Osteolytic defects of the phalanges of the hand Hyperlordosis Exercise-induced myalgia Failure to thrive in infancy Hepatic failure Progressive proximal muscle weakness Elevated serum creatine phosphokinase IgA deficiency Spinal rigidity Prolonged QT interval Restrictive cardiomyopathy Ventricular arrhythmia Prominent supraorbital ridges Pyloric stenosis Accelerated skeletal maturation Hyperlipidemia Round face Abnormality of the nail Short neck Leukocytosis Apnea Recurrent fractures Brachydactyly Dyspnea Telangiectasia Ventricular septal defect Hypertrichosis Cardiomegaly Bilateral sensorineural hearing impairment Atrial septal defect Edema Intellectual disability, mild Wide intermamillary distance Hernia Clinodactyly Epicanthus Polyneuropathy Patent ductus arteriosus Ichthyosis Abnormal heart morphology Abnormality of the foot Malabsorption Hypotrichosis Alopecia Left ventricular hypertrophy Abnormal cardiac septum morphology Posteriorly rotated ears Low-set, posteriorly rotated ears Hyperreflexia Gingival overgrowth Hearing impairment Plagiocephaly Hyperuricemia Insulin-resistant diabetes mellitus Oligomenorrhea Maternal diabetes Rod-cone dystrophy Gastroesophageal reflux Hyperlipoproteinemia Type I diabetes mellitus Eclampsia Proptosis Generalized hypotonia Superior pectus carinatum Synovitis Abnormal cerebellum morphology Generalized myoclonic seizures Schwannoma Loose anagen hair Pectus excavatum of inferior sternum Lactic acidosis Multiple lentigines Cerebral calcification Gonadal neoplasm Peripheral axonal neuropathy Vertigo Confusion Reduced factor XIII activity Muscle cramps Specific learning disability Panuveitis Polymicrogyria Juvenile myelomonocytic leukemia Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Migraine Increased serum lactate Coma Memory impairment Reduced factor XII activity Lymphangioma Hip dysplasia Sensory impairment Neurofibrosarcoma Postural instability Asymmetry of the thorax Nausea Optic disc hypoplasia Visual loss Nasogastric tube feeding Photophobia Kyphosis Nyctalopia Erythema Abnormality of the pinna Developmental regression Cerebral atrophy Feeding difficulties in infancy Mental deterioration Proteinuria Anxiety EEG abnormality Jaundice Stroke Acidosis Autism Depressivity Weight loss Gait ataxia Cerebral cortical atrophy Myoclonus Abnormality of the cardiovascular system Dementia Cerebellar hypoplasia Hyporeflexia Areflexia Attention deficit hyperactivity disorder Neurological speech impairment Paresthesia Congenital cataract Dysmetria Anal atresia Nausea and vomiting Preductal coarctation of the aorta Postductal coarctation of the aorta Muscular hypotonia Encephalopathy Carious teeth Visual impairment Motor delay Dysarthria Optic atrophy Tremor Pruritus Ophthalmoplegia Gait disturbance Respiratory insufficiency Arthrogryposis multiplex congenita Respiratory distress Blindness Cerebellar atrophy Diarrhea Abnormality of the dentition Hypertonia Dystonia Generalized tonic-clonic seizures Pigmentary retinopathy Bundle branch block Generalized-onset seizure Wolff-Parkinson-White syndrome Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Increased CSF lactate Dysesthesia Posterior subcapsular cataract Vitiligo Xerostomia Heart block Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Transient ischemic attack Visual hallucinations Delusions Cardiorespiratory arrest Facial diplegia Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Motor polyneuropathy Psychomotor deterioration Abnormality of visual evoked potentials Paronychia Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis 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 Spotty hypopigmentation Muscle fiber atrophy Auditory hallucinations Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Abnormal nerve conduction velocity Abnormal macular morphology Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Neonatal hypoglycemia Hashimoto thyroiditis Nephrotic syndrome External ophthalmoplegia Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes Macular degeneration Bilateral ptosis Anorexia Type II diabetes mellitus Status epilepticus Psychosis Hemiparesis Involuntary movements Decreased body weight Abnormality of retinal pigmentation Purpura Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Hypercalciuria Hemiplegia Atopic dermatitis Dysphasia Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Visual field defect Hyperkalemia Vestibular dysfunction Aortic aneurysm Bifid scrotum Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Mask-like facies Aphasia Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Atrial flutter Shield chest Protuberant abdomen Nonimmune hydrops fetalis Snoring Abnormality of the anterior pituitary Abnormality of iron homeostasis Congenital hepatic fibrosis Generalized hyperpigmentation Portal hypertension Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Episcleritis Arthralgia Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Abnormality of endocrine pancreas physiology Carcinoma Nasal obstruction Microvesicular hepatic steatosis Minimal subcutaneous fat Accelerated atherosclerosis Decreased serum leptin Narrow nasal ridge Abnormal atrioventricular conduction Supraventricular arrhythmia Precocious atherosclerosis Progeroid facial appearance Premature graying of hair Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Abnormal glucose tolerance Ascites Alcoholism Testicular atrophy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Hepatocellular carcinoma Pericarditis Osteomalacia Abnormal joint morphology Pleural effusion Hepatic fibrosis Hepatitis Skin nodule Recurrent pharyngitis Decreased adiponectin level Pneumonia Cleft upper lip Lymphadenopathy Pectus carinatum Retinopathy Abnormality of the kidney Camptodactyly Conductive hearing impairment Pes planus Micropenis Hyperkeratosis Severe short stature Hydrocephalus Full cheeks Anteverted nares Frontal bossing Wide nasal bridge Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Prominent veins on trunk Loss of facial adipose tissue Calf muscle pseudohypertrophy Abnormality of the neck Preeclampsia Abnormality of the musculature Abnormality of the face Flat face Decreased testicular size Decreased serum testosterone level Increased antibody level in blood Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Microcytic anemia Elevated erythrocyte sedimentation rate Hallux valgus Overgrowth Stridor Psoriasiform dermatitis Sleep apnea Osteolysis Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Gynecomastia Bronchiectasis Blue sclerae Epistaxis Mitral valve prolapse Acroosteolysis of distal phalanges (feet) Muscle hypertrophy of the lower extremities Drusen Downslanted palpebral fissures High, narrow palate Bruising susceptibility Facial asymmetry Pulmonic stenosis Leukemia Broad forehead Sparse hair Kyphoscoliosis Polyhydramnios Thrombocytopenia Abnormality of cardiovascular system morphology Myopia Abdominal distention Depressed nasal bridge High palate Low-set ears Cryptorchidism Abnormal facial shape Strabismus Abnormal oral cavity morphology Arterial stenosis Bone cyst Broad foot Growth hormone excess Large hands Triangular face Abnormal bleeding Abnormality of the hair Cubitus valgus Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Dental malocclusion Patent foramen ovale Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Lymphedema Amblyopia Clumsiness Low posterior hairline Coarctation of aorta Webbed neck Precocious puberty Thickened skin Proximal upper limb muscle hypertrophy Abnormality of the menstrual cycle Neonatal hypotonia Rigidity Talipes equinovarus Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Osteopoikilosis Absence of subcutaneous fat Acute pancreatitis Joint stiffness Angina pectoris Peripheral arterial stenosis Abnormality of lipid metabolism Short clavicles Cellulitis Cranial nerve paralysis Spontaneous abortion Thin vermilion border Narrow chest Papule High forehead Obesity Proximal muscle weakness Distal muscle weakness Abnormality of skin pigmentation Mildly elevated creatine phosphokinase Mandibular prognathia Hyperhidrosis Immunodeficiency Muscle mounding Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Supraventricular tachycardia Increased variability in muscle fiber diameter Muscular dystrophy Cutis marmorata Ventricular fibrillation Reduced bone mineral density Delayed gross motor development Ventricular tachycardia Recurrent bacterial infections Pointed chin Sparse and thin eyebrow Long eyelashes Generalized muscle weakness Tachycardia Spastic paraplegia Prominent ear helix



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