retardation, athetosis and hypopigmentation) [5] ; Cornelia de Lange Syndrome (primordial growth deficiency, severe mental retardation, anomalies of the extremities and a
[ijri.org]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy
[preventiongenetics.com]
Martsolf JT, Hunter AGW, Haworth JC (1978) Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.
[link.springer.com]
Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia
[informatics.jax.org]
Posterior polar cataract Coralliform cataract Autosomal dominant nonsyndromic sensorineural deafness type DFNA Nance-Horan syndrome Wolfram syndrome Familial isolated dilated cardiomyopathy
[csbg.cnb.csic.es]
Coloboma, choanal atresia, mild to severe mental retardation, growth retardation and development Genital and Ear anomalies Cardiovascular features of CHARGE tetralogy of
[studyblue.com]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a
[globalgenes.org]
Congenital malformation hsa04020 Calcium signaling pathway H00756 Pitt-Hopkins syndrome Pitt-Hopkins Syndrome (PHS) is a rare disorder of severe mental retardation.
[kegg.jp]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
1A Dilated cardiomyopathy 1A Dilated cardiomyopathy 1AA Dilated cardiomyopathy 1BB Dilated cardiomyopathy 1C Dilated cardiomyopathy 1D Dilated cardiomyopathy 1E Dilated cardiomyopathy
[pentacorelab.hu]
mental retardation in the two survivors (table 1).
[jmg.bmj.com]
Cases 401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 4 Cases 168588 Hyperandrogenism due to cortisone reductase deficiency 11 Cases 276405 Hyperbiliverdinemia
[azkurs.org]
Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a
[globalgenes.org]
Microcephaly, microphthalmia, brachydactyly with clinodactyly, severe mental retardation, conductive hearing loss, skeletal anomalie. – Congenital primary aphakia: caused
[bredagenetics.com]
[…] hsa04975 hsa04977 ] H01474 Acquired generalized lipodystrophy H01475 Lipodystrophy H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy [PATH: hsa04150 hsa04151 ] H01936 Hyperbiliverdinemia
[genome.jp]
1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy
[preventiongenetics.com]
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
[disorders.eyes.arizona.edu]
Clinical: Jaundice; difficulty in swallowing, speaking, and mastication; extensive muscular rigidity; coarse tremors. Fraunfelder FT, Roy FH.
[dentisty.org]
1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy
[preventiongenetics.com]
retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements
[genome.jp]
BLNK chr10 10q23.2 Agammaglobulinemia 4 613502 BLOC1S3 chr19 19q13 Hermansky-Pudlak syndrome 8 614077 BLOC1S6 chr15 15q15 Hermansky-pudlak syndrome 9 614171 BLVRA chr7 7p13 Hyperbiliverdinemia
[institutobernabeu.com]
(DCM) PSEN2 Dilated cardiomyopathy (DCM), Peripartum/pregnancy-associated cardiomyopathy SIGMAR1 Amyotrophic lateral sclerosis, Frontotemporal lobar degeneration-motor neuron
[genda.com.ar]
Slide 26 26 Phenylketonuria PKU Slide 27 27 1.Hyperactivity, athetosis, vomiting. 2.Blond. 3.Seborric dermatitis or eczema skin. 4.Hypertonia. 5.Seizures. 6.Severe mental
[vdocuments.mx]
Patients with obstructive jaundice will excrete bile pigments such as bilirubin, and the urine will be yellow–brown to yellow–green in color.
[mbtshoeswomen.us]
Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.
[ncbi.nlm.nih.gov]
retardation, progressive Progressive mental retardation [ more ] 0006887 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe
[rarediseases.info.nih.gov]
Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia
[informatics.jax.org]
Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a
[globalgenes.org]
mental retardation; LGMD2P DAG1 / Alpha dystroglycan Early childhood Very High Slow Contractures common Mental Retardation (mild-severe); small head circumference LGMD2Q
[now.aapmr.org]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].
[pubs.sciepub.com]
Intellectual disability, severe MedGen UID: 48638 •Concept ID: C0036857 • Mental or Behavioral Dysfunction Severe mental retardation is defined as an intelligence quotient
[ncbi.nlm.nih.gov]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
[…] syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy
[mendelian.co]
Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. Child Nerv Syst. 1992;8:237–241.
[ncbi.nlm.nih.gov]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24(1): 15–25.
[link.springer.com]
Features of a severe phenotype include megaloblastic anemia and mental retardation.
[genome.jp]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
[…] hypertrophic cardiomyopathy 7 Familial hypertrophic cardiomyopathy 6 Familial hypertrophic cardiomyopathy 4 Familial hypertrophic cardiomyopathy 3 Familial hypertrophic cardiomyopathy
[amp.pharm.mssm.edu]
[…] acidosis, and seizures614462 MBD5Mental retardation, autosomal dominant 1156200 MECP2Encephalopathy, neonatal severe; Mental retardation, X-linked syndromic, Lubs type; Mental
[qgenomics.com]
BLNK chr10 10q23.2 Agammaglobulinemia 4 613502 BLOC1S3 chr19 19q13 Hermansky-Pudlak syndrome 8 614077 BLOC1S6 chr15 15q15 Hermansky-pudlak syndrome 9 614171 BLVRA chr7 7p13 Hyperbiliverdinemia
[institutobernabeu.com]
An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and
[ebi.ac.uk]
A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome). Gabbett MT, Clark RC, McGaughran JM.
[ncbi.nlm.nih.gov]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
familial dilated 45 Cardiomyopathy, hypertrophic, primary or idiopathic 45 Cerebral hemorrhage with amyloidosis, hereditary 45 Emery-Dreifuss muscular dystrophy 45 Frontotemporal
[research.cchmc.org]
The clinical features of classic MD typically comprise neurological defects (severe mental retardation, neurodegeneration, seizures), growth retardation, hypothermia, laxity
[doi.org]
The globin portion, a protein, is degraded into amino acids and plays no role in jaundice. Two reactions then take place with the heme molecule.
[en.wikipedia.org]
Cardiac injury may include arrhythmia, cardiomyopathy, and autonomic dysfunction.
[ncbi.nlm.nih.gov]
mental retardation.
[jamanetwork.com]
607091 Ehlers-Danlos syndrome, progeroid form, 130070 Hypercholanemia, familial, 607748 Maple syrup urine disease, type Ia, 248600 Maple syrup urine disease, type Ib, 248600 Hyperbiliverdinemia
[slidedoc.us]
We suggest to test for DK1-CDG in patients with dilated cardiomyopathy.
[paperity.org]
mental retardation and epilepsy.
[ncbi.nlm.nih.gov]
Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia
[amp.pharm.mssm.edu]
dilated, 1Z) TNNI2 (Arthrogryposis multiplex congenita, distal type 2B) TNNI3 (Cardiomyopathy, dilated, 1FF) TNNT1 (Nemaline Myopathy, Amish Type) TNNT2 (Cardiomyopathy,
[en.praenatal-medizin.de]
If not treated immediately, and many times even with treatment, severe mental retardation, verbal dyspraxia (difficulty), motor abnormalities, and reproductive complications
[en.wikipedia.org]
602403 {Alzheimer disease, susceptibility to}, 104300 (3) BLNK 604515 Agammaglobulinemia 4, 613502 (3) BLOC1S3 609762 Hermansky-Pudlak syndrome 8, 614077 (3) BLVRA 109750 Hyperbiliverdinemia
[usegalaxy.org]
Cardiomyopathy, dilated, 1FF ( TNNI3) Cardiomyopathy, dilated, 1G ( TTN) Cardiomyopathy, dilated, 1GG ( SDHA) Cardiomyopathy, dilated, 1I ( DES) Cardiomyopathy, dilated,
[en.praenatal-medizin.de]
retardation, and death usually in the first years of life.
[ghr.nlm.nih.gov]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
Indeed, progressive cardiomyopathy has become a major cause of morbidity and mortality in these patients since progressive respiratory failure—the former number one cause
[pmj.bmj.com]
At least 13 patients have been identified harboring mutations in this gene and all suffer from severe nonsyndromic mental retardation.
[themedicalbiochemistrypage.org]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
We suggest to test for DK1-CDG in patients with dilated cardiomyopathy.
[link.springer.com]
She has moderate mental retardation and severe instability of stance and gait.
[jscimedcentral.com]
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoportal sclerosis Hereditary fructose intolerance Hereditary hemorrhagic telangiectasia Hyperbiliverdinemia
[se-atlas.de]
Additional features in AS include metabolic syndrome associated with insulin resistance and hyperlipidemia, cardiomyopathy and sensorineural deafness.
[clinicaltrials.gov]
retardation — the severity of mental retardation is directly related to the increasing number of extranumerary X chromosomes psychiatric disorders, behavioral problems, learning
[atlases.muni.cz]
21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia
[gsdseq.ir]
1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy
[preventiongenetics.com]
Additional possible symptoms: GAMT – behavioral disorder – including autistic behaviors; movement disorders SLC6A8 – growth retardation; (males) mild to severe mental retardation
[umdf.org]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
[…] and Arrhythmogenic right ventricular cardiomyopathy, as well as many others.
[books.google.com]
Severe mental retardation. Infants usually die a few weeks after birth. Trisomies 8, 9, and 22 are extremely rare.
[flashcardmachine.com]
Hyperbiliverdinemia, 614156 (3) BLVRB G:600941. . BLZF1 G:608692. . BMF G:606266. . BMI1 G:164831. . BMIQ1 P:606641. . BMIQ2 P:606643. . BMIQ3 P:607446. .
[usegalaxy.org]
254 cholesterol transport and familiar hypercholesterolemia 255 92 Genetic complexities of atherosclerosis 260 genes for high blood pressure 266 94 Familial hypertrophic cardiomyopathy
[books.google.com]
[…] to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic
[mendelian.co]
[…] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia
[gsdseq.ir]
Dilated, 1ee MYH6 Cardiomyopathy, Dilated, 1g TTN Cardiomyopathy, Dilated, 1y TPM1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 Cardiomyopathy, Familial Hypertrophic, 14
[selfdecode.com]
Survival to adulthood is accompanied by hypogonadism, skeletal disproportions, severe ataxia and stable mental retardation(3-5).
[indianpediatrics.net]
jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras
[orpha.net]
There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. {38:Marques-da-Silva et al. (2017)} noted that CDG1A is
[diseaseinfosearch.org]
Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation.
[findzebra.com]
[…] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green
[csbg.cnb.csic.es]
[…] tryptophan or lysine metabolism) 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750 DHTKD1 in Cardiomyopathies
[panelapp.genomicsengland.co.uk]
He suffered from severe constipation. He had severe/profound mental retardation and had seizures from age 4 years.
[nature.com]
[…] hsa04975 hsa04977 ] H01474 Acquired generalized lipodystrophy H01475 Lipodystrophy H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy [PATH: hsa04150 hsa04151 ] H01936 Hyperbiliverdinemia
[genome.jp]
[…] hypogonadism collagenoma syndrome * Cardiomyopathy hypogonadism metabolic anomalies * Cardiomyopathy spherocytosis * Cardiomyopathy, familial dilated * Cardiomyopathy, fatal
[medicalgeek.com]