Dysarthria, and Jaundice

Diseases related with Dysarthria and Jaundice

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


Top matches:

Medium match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Medium match NIEMANN-PICK DISEASE, TYPE C2; NPC2


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 (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) 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).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Medium match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

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Other less relevant matches:

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1


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

Medium match GALACTOSEMIA


Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

Medium match CEREBROTENDINOUS XANTHOMATOSIS


Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Medium match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Medium match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

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

Top 5 symptoms//phenotypes associated to Dysarthria and Jaundice

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Dysarthria and Jaundice. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nausea and vomiting

Uncommon Symptoms - Between 30% and 50% cases


Dystonia

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Dementia

Common Symptoms - More than 50% cases


Gait disturbance

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Osteoporosis

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Generalized hypotonia Neurodegeneration Progressive neurologic deterioration Cataract Dysphagia Growth delay Weight loss Diarrhea Abnormality of the liver Muscle weakness Cerebral atrophy Depressivity Fatigue Decreased liver function Cirrhosis Cognitive impairment Psychosis Microcephaly Lethargy Peripheral neuropathy Neurological speech impairment Respiratory insufficiency Abnormality of the cerebral white matter Hepatosplenomegaly Hypoglycemia Feeding difficulties Splenomegaly Vomiting Developmental regression Elevated hepatic transaminase Hypertrophic cardiomyopathy Coma Feeding difficulties in infancy Ascites Hepatic steatosis Polyneuropathy Difficulty walking Anorexia Myoclonus Truncal ataxia Nausea Motor delay Malabsorption Congenital cataract Renal tubular dysfunction Anemia Hyperreflexia Encephalopathy Edema Cerebellar atrophy Schizophrenia Hypertonia Sepsis Prolonged neonatal jaundice Mental deterioration Cataplexy Speech apraxia Cardiomyopathy Hepatic failure Abnormality of movement

Rare Symptoms - Less than 30% cases


Renal insufficiency EEG abnormality Increased serum lactate Muscle cramps Lactic acidosis Cardiorespiratory arrest Dilated cardiomyopathy Neoplasm Easy fatigability Rhabdomyolysis Abnormality of the pinna Abnormal cerebellum morphology Cerebral calcification Hepatitis Cholestasis Chronic diarrhea Drowsiness Hemiplegia Left ventricular hypertrophy Aminoaciduria Ragged-red muscle fibers Hemolytic anemia Metabolic acidosis Pancreatitis Hypogonadotrophic hypogonadism Exercise intolerance Type I diabetes mellitus Hypogonadism Shock Cardiac arrest Clonus Nephrolithiasis Nystagmus Visual impairment Neoplasm of the liver Joint dislocation Hallucinations Headache Involuntary movements Back pain Hypercalciuria Abnormality of mitochondrial metabolism Personality changes Glycosuria Arrhythmia Congestive heart failure Elevated serum creatine phosphokinase Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the renal tubule Myopathy Respiratory distress Fever Episodic vomiting Pain Proximal tubulopathy Areflexia Gait ataxia Delusions Chondrocalcinosis Short stature Myalgia Acidosis Joint hyperflexibility Generalized-onset seizure Tetraparesis Spastic tetraparesis Mask-like facies Spontaneous hematomas Peripheral axonal neuropathy Hypocupremia Arthralgia Anxiety Proteinuria Pruritus Dyspnea Confusion Paresthesia Hypoparathyroidism Aggressive behavior Mutism Fetal ascites Abnormality of the nervous system Aphasia Neurofibrillary tangles Loss of speech Gliosis Supranuclear gaze palsy Visceromegaly Abnormality of coagulation Thrombocytopenia Intrauterine growth retardation Vertical supranuclear gaze palsy Bone-marrow foam cells Sea-blue histiocytosis Abnormal pyramidal sign Esophageal varix Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Hypertension Pneumonia Rigidity Abnormality of extrapyramidal motor function Dysmetria Postural instability Neuronal loss in central nervous system Gastrointestinal hemorrhage Athetosis Parkinsonism Oral-pharyngeal dysphagia Decreased fertility in females Tetraplegia Paralysis Bruising susceptibility Bradykinesia Intellectual disability, profound Intention tremor Respiratory failure Chorea Ophthalmoplegia Clumsiness Impairment of galactose metabolism Generalized tonic-clonic seizures Speech articulation difficulties Abnormality of the ovary Abnormal bleeding Hearing impairment Cochlear degeneration Paralytic ileus Abnormal mitochondrial shape Hepatic periportal necrosis Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Cochlear malformation Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Abdominal pain Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Cerebral cortical atrophy Progressive night blindness Spotty hypopigmentation Edema of the dorsum of hands Skeletal muscle atrophy Short neck Abnormality of the dentition Kyphosis Crohn's disease Hemeralopia Ventriculomegaly Abnormal macular morphology Optic atrophy Visual loss Hyporeflexia Hypertelorism Delayed skeletal maturation Constipation Cerebellar hypoplasia Rod-cone dystrophy Diabetes mellitus Sensorineural hearing impairment Blindness Paronychia Abnormal mitochondrial morphology Ptosis Oliguria Reduced protein C activity Bilateral intracranial calcifications Hypoketotic hypoglycemia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Episodic quadriplegia Progressive proximal muscle weakness Ketosis Myoglobinuria Morphological abnormality of the vestibule of the inner ear Homonymous hemianopia Fatigable weakness Acute kidney injury Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Morphological abnormality of the inner ear Stridor Polycystic kidney dysplasia Slurred speech Abnormality of acid-base homeostasis Exercise-induced myalgia Elevated plasma acylcarnitine levels Nonketotic hypoglycemia Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Renal cortical cysts Limb tremor Impaired mastication Hypoglycemic coma Medulloblastoma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Hypothyroidism Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormal cochlea morphology Autism Aortic dissection Gastroesophageal reflux Hemiplegia/hemiparesis Dysphasia Vestibular dysfunction Bundle branch block Anterior hypopituitarism Adrenal insufficiency Stroke-like episode Seborrheic dermatitis Left ventricular failure Retinal pigment epithelial atrophy Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Abnormality of peripheral nerve conduction Visual field defect Ileus Bifid scrotum Hemianopia Aplasia/Hypoplasia of the cerebellum Motor polyneuropathy Dysesthesia Intestinal obstruction Ophthalmoparesis Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Hyperkalemia Prolonged QT interval Aortic aneurysm Cerebral ischemia Transient ischemic attack Tubulointerstitial nephritis Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Vitiligo Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Multiple lipomas Reduced consciousness/confusion Atopic dermatitis Gait imbalance Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Hyponatremia Bilateral ptosis Photophobia Polymicrogyria Pigmentary retinopathy Amenorrhea Specific learning disability Hip dysplasia Memory impairment Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Nephropathy Renal Fanconi syndrome Tubulointerstitial abnormality Hirsutism Vertigo Bilateral sensorineural hearing impairment Ichthyosis Anal atresia Delayed puberty Carious teeth Arthrogryposis multiplex congenita Psychotic episodes Stroke Facial diplegia Nyctalopia Erythema Protruding ear Apnea Abnormality of the cerebellar vermis Abnormality of the cardiovascular system Nephrotic syndrome Decreased nerve conduction velocity Generalized hirsutism Cachexia Atrioventricular block Gastroparesis Chronic kidney disease Growth abnormality Hyperkinesis Goiter Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes External ophthalmoplegia Macular degeneration Purpura EMG abnormality Type II diabetes mellitus Cerebral visual impairment Abnormality of retinal pigmentation Gingival overgrowth Decreased body weight Hypertrichosis Hemiparesis Atrial fibrillation Amaurosis fugax Ventricular hypertrophy Status epilepticus Auditory hallucinations Abnormal nerve conduction velocity Pulmonary arterial hypertension Attention deficit hyperactivity disorder Poor speech Poor head control Retinal hemorrhage Abnormality of the eye Intellectual disability, mild Increased level of galactonate in red blood cells Increased level of galactitol in urine Increased level of galactitol in red blood cells Increased level of galactitol in plasma Galactosuria Food intolerance Albuminuria Hyperchloremic metabolic acidosis Hypergalactosemia Vitreous hemorrhage Joint stiffness Edema of the lower limbs Abnormality of the coagulation cascade Nephritis Premature ovarian insufficiency Abnormality of the voice Failure to thrive in infancy Hypergonadotropic hypogonadism Abdominal distention Irritability Abnormality of metabolism/homeostasis Delayed speech and language development Pallor Spastic paraplegia Congenital thrombocytopenia Decreased HDL cholesterol concentration Abnormality of the dentate nucleus Palatal myoclonus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Tendon xanthomatosis Juvenile cataract Giant cell hepatitis Xanthelasma Pseudobulbar paralysis Myelopathy Precocious atherosclerosis Paraplegia Xanthomatosis Angina pectoris Frontotemporal dementia Abnormality of the periventricular white matter Agitation Cholelithiasis Abnormality of vision Hypercholesterolemia Atherosclerosis Myocardial infarction Optic disc pallor Progressive cerebellar ataxia Fatal liver failure in infancy Rapid neurologic deterioration Tuberous xanthoma Portal hypertension Astrocytosis Echolalia Hypomimic face Action tremor Generalized dystonia Limb dystonia Polycythemia Axonal loss Steppage gait Toe walking Emotional lability Dysdiadochokinesis Poor fine motor coordination Spastic paraparesis Hyperbilirubinemia Paraparesis Sensorimotor neuropathy Lower limb muscle weakness Motor aphasia Perseveration Interstitial pulmonary abnormality Stereotypy Abnormal lung morphology Dyskinesia Prolonged prothrombin time Abnormal myelination Supranuclear ophthalmoplegia Neonatal hypotonia Foam cells Spastic dysarthria Head tremor Trismus Dysphonia Spastic tetraplegia Mitral valve prolapse Oligohydramnios Sleep disturbance Retinal degeneration Skin rash Abnormality of divalent inorganic cation homeostasis Hyperglycinemia Abnormal transferrin saturation Copper accumulation in liver Increased total iron binding capacity Decreased serum ferritin Pica Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy EEG with generalized slow activity Abnormality of central somatosensory evoked potentials Hyperammonemia Joint swelling Poor motor coordination Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Hyperphosphaturia Acute hepatic failure Increased reactive oxygen species production Hand tremor Hepatocellular carcinoma Abnormality of blood and blood-forming tissues Acute hepatitis Arthropathy Osteomalacia Pathologic fracture Global brain atrophy Abnormality of the hand Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Spontaneous abortion Muscle stiffness Hypersexuality High nonceruloplasmin-bound serum copper Bone pain Renal cyst Scapular winging Leukodystrophy Wide anterior fontanel Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Cardiomegaly Waddling gait Aciduria Generalized muscle weakness Pulmonary hypoplasia Mixed demyelinating and axonal polyneuropathy Limb muscle weakness Respiratory tract infection Hyperlordosis Telecanthus Proximal muscle weakness High forehead Macrocephaly Depressed nasal bridge Abnormal facial shape Strabismus Atypical or prolonged hepatitis Kayser-Fleischer ring Increased body weight Osteoarthritis Micrognathia Dry skin Wormian bones Thickened skin Abnormality of the face Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Sparse scalp hair Fine hair Full cheeks Recurrent fractures Hypopigmentation of the skin Narrow chest Abnormal palate morphology Severe global developmental delay Sparse hair Joint laxity Umbilical hernia Brachycephaly Inguinal hernia Pectus excavatum Hernia Dilatation Intellectual disability, severe Cryptorchidism Cutis laxa Coarse hair Joint hypermobility Woolly hair Infertility Arthritis Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Multiple joint dislocation Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Pili torti Hypothermia Hyperextensible skin Atypical scarring of skin Exostoses Abnormality of lipid metabolism Hypopigmentation of hair Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Metaphyseal widening Intracranial hemorrhage Prominent ear helix



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