בדיקת ZER4Family – בדיקת סקר גנטי מורחב

בדיקת ZER4Family – בדיקת סקר גנטי מורחב

כי מגיע לכם לדעת יותר!

בדיקת ZER4Family הינה בדיקת הסקר גנטי מורחב,
אשר מטרתה לזהות ולהפחית את הסיכון להעברת תסמונות גנטיות לילדכם.

ZER4Family הינה בדיקת הסקר גנטי הרחבה והמותאמת ביותר לאוכלוסייה הישראלית.

ZER4Family מבוצעת בישראל במעבדות זר בסטנדרטים מחמירים
וכוללת ייעוץ גנטי מקצועי.

הבדיקה סוקרת מעל 500 גנים ומעל 1800 מוטציות השכיחות בקרב האוכלוסייה הישראלית מכלל העדות והמוצאים (יהודים ולא יהודים).

מדוע לבחור בבדיקת ZER4Family?

פשוטה: בדיקת סקר פשוטה, לא פולשנית, וללא סיכון.
רחבה: בדיקת ZER4Family בודקת מעל 500 גנים ומעל 1800 מוטציות השכיחות בקרב האוכלוסייה הישראלית.
מותאמת: הבדיקה סוקרת תסמונות השכיחות בקרב האוכלוסייה הישראלית מכלל העדות והמוצאים (יהודים ולא יהודים), בניגוד לבדיקות אחרות הקיימות בשוק.
נגישה: בדיקה רחבה וזולה יותר מזו המוצעת בקופות החולים.
מקצועית: בתום שלב האנליזה, ישלח אליכם דו"ח המפרט את הממצאים, והפניה להמשך טיפול.
מדויקת: הבדיקה מבוצעת בארץ במעבדות זר בסטנדרטים מחמירים.
נוחה: לחברת מעבדות זר נקודות איסוף דמים בפריסה ארצית. כמו כן חברת מעבדות זר מספקת שירותי לקיחת דמים מהבית ע"י אחות מקצועית בחלק מאיזורי הארץ.
zer4family

למי מיועדת הבדיקה?

– למתכננים הקמת משפחה (עכשיו או בעתיד).
– למעוניינים להפחית את הסיכון בהעברת תסמונות גנטיות לילידיהם.
– הבדיקה רלוונטית מאוד גם כאשר אין היסטוריה משפחתית של מחלות גנטיות במשפחה.
– ניתן לבצע את הבדיקה לפני או במהלך הריון.
– ללא סיכונים.

שלבים לביצוע הבדיקה: פשוט, קל וקרוב למקום מגוריך

שלב 1
הזמנת תור לבדיקה בקרבת מקום מגורייך ע"י שיחת טלפון למעבדות זר או השארת פרטייך.
שלב 2
בדיקת דם פשוטה ולא פולשנית באחד ממרכזי השירות שלנו הפזורים ברחבי הארץ.
שלב 3
ביצוע הבדיקה
ע"י המעבדה
ואנליזה של התוצאות.
שלב 4
מתן תשובות, ושיחת יעוץ גנטי אישית במידת הצורך, לקבלת הסבר והמשך טיפול.

דואגים לשקט הנפשי שלכם

צוות מעבדות זר עומד לרשותכם בכל שאלה
בטלפון: 3486*

או ע"י השארת פרטים:

    * עבור אשה הרה – ניתן לקבל החזר עד גובה 2000 ש"ח מסל ההריון

    סקר גנטי מורחב – ZER4Family הבדיקה הרחבה והמותאמת ביותר לאוכלוסיה הישראלית מכלל העדות והמוצאים (יהודים ולא יהודים).
    הבדיקה סוקרת מעל 500 גנים ומעל 1800 מוטציות השכיחות בקרב האוכלוסיה הישראלית.
    רשימת התסמונות כוללת את כל התסמונות אשר נכללות בסל הבריאות וכן את כל אלו אשר אושרו ע"י האיגוד הגנטי וטרם הוכנסו לסל הבריאות (*).
    בנוסף הבדיקה מכילה תסמונות רבות וחשובות אחרות לפי המלצות המכונים הגנטי ים אשר לא נכללות בסל הבריאות כיום ואינן נכללות גם בבדיקות סקר גנטי שמבוצעות בחו"ל.
    * למעט בדיקות ה-SMA, וה-Fragile X – הכלולות בסל הבריאות, יבוצעו דרכנו בשיטה אחרת, ללא עלות נוספת עפ"י זכאות משרד הבריאות.

    רשימת התסמונות ומוטציות הנבדקות בבדיקת ZER4FAMILY

    3MC syndrome 2

    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

    3-methylglutaconic aciduria, type III – Costeff

    3-methylglutaconic aciduria, type IX

    Abetalipoproteinemia ABL

     Achromatopsia-2 – total color blindness

     Achromatopsia-3,macular degeneration, juvenile

     Acrodermatitis enteropathica

     Acyl-CoA dehydrogenase, very long-chain, VLCAD deficiency

     Adams-Oliver syndrome 4

     Adenosine deaminase 2 deficency

     Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

     Adrenocorticotropic hormone deficiency

     Afibrinogenemia congenital

     Aicardi Goutieres syndrome

     Aicardi-Goutieres syndrome 2

     Al Kaissi syndrome

     Alacrima, achalasia, and mental retardation syndrome

     Albinism, oculocutaneous, type IA (OCA1A)

     Albinism, oculocutaneous, type II

     Albinism, oculocutaneous, type IV

     Alkaptonuria

     Alport Syndrome, COL4A3-Related

     Alport syndrome, COL4A4-Related

     Alport syndrome, COL4A5-Related

     Alstrom syndrome

     Amelogenesis imperfecta, type IG (enamel-renal syndrome)

     Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

     Argininosuccinic aciduria

     Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome

     Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome 2

     Arthrogryposis, mental retardation, and seizures

     Arthropathy, progressive pseudorheumatoid, of childhood

     Asparagine synthetase deficiency

     Aspartylglucosaminuria

     Ataxia Telangiectasia like disorder

     Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

     Ataxia-tyelangiectasia

     ATPase deficiency, nuclear encoded

     Autoimmune polyendocrinopathy syndrome , type I (APS-1) with or without reversible metaphyseal dysplasia

     Autoinflammation, lipodystrophy, and dermatosis syndrome

     Autosomal Recessive Hereditary Lymphedema

    Bardet-Biedl syndrome 1

     Bardet-Biedl syndrome 10

     Bardet-Biedl syndrome 11

     Bardet-Biedl syndrome 2

     Bardet-Biedl syndrome 3

     Bardet-Biedl syndrome 4

     Bardet-Biedl syndrome 7

     Bardet-Biedl syndrome 9

     Bare lymphocyte syndrome, type II (SCID)

     Bartter Syndrome, Gitelman Variant

     Bartter syndrome, type 3 and Gitelman syndrome

     Bartter syndrome, type 4a infantile variant with sensorineuronal deafness

     Basel-Vanagaite-Smirin-Yosef syndrome

     Beta-ureidopropionase deficiency

     Bietti crystalline corneoretinal dystrophy

     Bilateral Frontoparietal Polymicrogyria (BFPP)

     Biotinidase deficiency

     Birk Volodarsky PMR Synderome Hypotonia and psychomotor developmental delay

     Birk-Landau-Perez cerebro-renal syndrome

     Bloom syndrome

     Brachydactyly type A2

     Brittle cornea syndrome 1

    Canavan Disease

     Carbamoylphosphate synthetase I deficiency

     Cardio-Cutaneous Syndrome DCM

     Cardiomyopathy, dilated – Lethal Congenital Arthrogryposis

     Cardiomyopathy, dilated , 1GG neonatal isolated

     Carnitine deficiency, systemic primary

     Carnitine palmitoyltransferase 1 deficiency

     Carnitine-acylcarnitine translocase deficiency – CACT

     Cerebellar ataxia and developmental delay

     Cerebral creatine deficiency syndrome 3

     Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome – CEDNIK Syndrome

     Cerebrotendinous xanthomatosis

     Ceroid lipofuscinosis, neuronal, 1

     Ceroid lipofuscinosis, neuronal, 2

     Ceroid lipofuscinosis, neuronal, 5

     Ceroid lipofuscinosis, neuronal, 6

     Ceroid lipofuscinosis, neuronal, 7

     Chanarin-Dorfman syndrome

     Cholestasis, progressive familial intrahepatic 1

     Cholestasis, progressive familial intrahepatic type 2

     Choreoacanthocytosis

     Chronic granulomatous disease due to deficiency of NCF-1

     Chronic granulomatous disease due to deficiency of NCF-2

     Chronic granulomatous disease, X-linked

     Chronic granulomatous disease,autosomal, due to deficiency of CYBA

     Chudley-McCullough syndrome

     Ciliary dyskinesia, primary, 1, with or without situs inversus

     Ciliary dyskinesia, primary, 12

     Ciliary dyskinesia, primary, 16

     Ciliary dyskinesia, primary, 20

     Ciliary dyskinesia, primary, 26

     Ciliary dyskinesia, primary, 27

     Ciliary dyskinesia, primary, 29

     Ciliary dyskinesia, primary, 3, with or without situs inversus (CILD3/PCD)

     Ciliary dyskinesia, primary, 7, with or without situs inversus

     Ciliary dyskinesia, primary, 9, with or without situs inversus

     Citrullinemia,classic

     Cleft lip/palate ectodermal dysplasia, CLPED1 (Zlotogora-Ogur syndrome)

     Cockayne syndrome, type A

     Cockayne syndrome, type B

     Coenzyme Q10 deficiency, primary, 7

     Cohen syndrome

     Combined D-2- and L-2-hydroxyglutaric aciduria

     Combined malonic and methylmalonic aciduria

     Combined oxidative phosphorylation deficiency 24 (COXPD24)

     Cone-rod dystrophy 13

     Cone-rod dystrophy 18

     Cone-rod dystrophy 3

     cone-rod dystrophy 9

     Congenital chloride diarhhea (CLD)

     Congenital disorder of deglycosylation

     Congenital disorder of glycosylation

     Congenital disorder of glycosylation Ia

     Congenital disorder of glycosylation, type If

     Congenital disorder of glycosylation, type IIc

     Congenital disorder of glycosylation, type IId

     Congenital disorder of glycosylation, type Im

     Congenital disorder of glycosylation, type It

     Congenital myopathy

     Congenital recessive ichthyoses (CRI)

     Congenital surfactant deficiency (Surfactant metabolism dysfunction, pulmonary, 3)

     CPT deficiency, hepatic, type II

     Cutis laxa, Autosomal Recessive, type IIA

     Cystic fibrosis

     Cystinosis,CTNS-related

    Deafness, autosomal recessive

     Deafness, autosomal recessive 15

     Deafness, Autosomal Recessive 16

     Deafness, autosomal recessive 1A

     Deafness, Autosomal Recessive 1B

     Deafness, Autosomal Recessive 22

     Deafness, Autosomal Recessive 28

     Deafness, Autosomal Recessive 3

     Deafness, Autosomal Recessive 59

     Deafness, Autosomal Recessive 7

     Deafness, Autosomal Recessive 76

     Deafness, Autosomal Recessive 77

     Deafness, Autosomal Recessive 8/10

     Deafness, Autosomal Recessive 9

     Desmosterolosis

     Developmental delay, cognitive impairment, and atopic atrophy

     Diabetes insipidus, nephrogenic

     Diaphanospondylodysostosis

     Diarrhea 7, congenital

     Dihydrolipoamide Dehydrogenase Deficiency

     Dysautonomia, familial

     Dyserythropoietic anemia, congenital, type Ia

     Dyserythropoietic anemia, congenital, type II

     Dyskeratosis congenita

     Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

     Dystrophic epidermolysis bullosa, Autosomal Recessive,COL7A1-Related

    Early infantile epileptic encephalopathy 15

     Ectodermal dysplasia

     Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, Autosomal Recessive

     Ehlers Danlos syndrome, type VIIC

     Encephalopathy, fatal

     Epidermolysis bullosa simplex

     Epidermolysis bullosa simplex, Autosomal Recessive 2

     Epidermolysis bullosa, junctional

     Epidermolysis bullosa, junctional, Herlitz type

     Epidermolysis bullosa, junctional, non-Herlitz type

     Epidermolysis bullosa, junctional, with pyloric atresia – Carmi syndrome

     Epilepsy, progressive myoclonic 1B

     Epilepsy, progressive myoclonic 2A (Lafora)

     Epilepsy, pyridoxine-dependent

     Epileptic encephalopathy, early infantile, 18

     Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE

     Exfoliative ichthyosis, Autosomal Recessive, ichthyosis bullosa of Siemens-like

    Factor VII deficiency

     Familial neurohypophyseal diabetes insipidus

     Fanconi Anemia

     Fanconi Anemia – complementation group G

     Fanconi anemia, complementation group A

     Fanconi anemia, complementation group C

     Fanconi-Bickel syndrome

     Folate malabsorption, hereditary

     Fructose intolerance

     Fumarase deficiency, leiomyomatosis and renal cell cancer

    Galactosemia

     Gaucher disease, , type I

     Giant axonal neuropathy 1

     Glanzmann thrombasthenia, ITGA2B-related

     Glanzmann thrombasthenia, ITGB3-related

     Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset

     Glucocorticoid deficiency 4

     Glutaric acidemia IIC

     Glutaricaciduria type I

     Glycine encephalopathy and non-ketoic hyperglycinemia, GLDC-related

     Glycine encephalopathy, AMT-related

     Glycogen storage disease Ia – GDS1a

     Glycogen storage disease Ib

     Glycogen storage disease III

     Glycogen storage disease IXc

     GM1-gangliosidosis, type I

     Goldberg-Shprintzen megacolon syndrome

     Gray platelet syndrome

     Griscelli syndrome, type 2

     Griscelli syndrome, type 3

     Growth hormone deficiency, isolated, type IA

     Growth hormone deficiency, isolated, type IB

     Growth retardation, developmental delay, coarse facies, and early death

     Gyrate atrophy of choroid and retina with or without ornithinemia

    Haim-Munk syndrome

     Hemoglobipathies (Including sickle-cell anemia and beta thalassemia, Hb C, D, E, O)

     Hemolytic anemia & immune-mediated polyneuropathy, CD59-related

     Hemolytic uremic syndrome, complement factor H deficiency

     Hemophagocytic lymphohistiocytosis, familial, 3

     Hereditary inclusion body myopathy (HIBM)

     Hermansky-Pudlak syndrome 1

     Hermansky-Pudlak syndrome 3

     Hermansky-Pudlak syndrome 6

     Histiocytosis-lymphadenopathy plus syndrome

     HMG-CoA lyase deficiency

     Homocystinuria due to MTHFR deficiency

     Homocystinuria, thrombosis, hyperhomocysteinemic

     Hydrocephalus, nonsyndromic, Autosomal Recessive

     Hyperekplexia, hereditary 1, autosomal dominant or recessive

     Hyper-IgD syndrome

     Hyper-IgE recurrent infection syndrome, autosomal recessive

     Hyperinsulinemic hypoglycemia, familial, 1 (PHHI/HHF1)

     Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

     Hyperoxaluria, primary, type I

     Hyperoxaluria, primary, type II

     Hyperoxaluria, primary, type III

     Hyperphosphatasia with mental retardation syndrome 4

     Hypertophic Cardiomyopathy

     Hypertrophic osteoarthropathy, primary, Autosomal Recessive 2

     Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis

     Hypoaldosteronism, congenital, due to CMO II deficiency

     Hypomagnesemia 1, intestinal

     Hypomyelination and developmental delay

     Hypoparathyroidism retardation dysmorphism syndrome

     Hypophosphatasia, infantile

     Hypothyroidism, congenital, nongoitrous, 1

     Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (HPFR2)

     Hypotonia-cystinuria syndrome

    Ichthyosis, congenital, Autosomal Recessive 1

    Ichthyosis, congenital, Autosomal Recessive 4A

    Immunodeficiency, common variable, 8, with autoimmunity

    Immunodeficiency-centromeric instability-facial anomalies syndrome-2

    Infantile cerebellar-retinal degeneration

    Infantile neuroaxonal dystrophy 1 (INAD)

    Infantile neurodegenerative disorder – Early onset progressive encephalopathy (PEBAT)

    Inflammatory bowel disease 28, early onset, autosomal recessive

    Insensitivity to pain, congenital, with anhidrosis (CIPA)

    Insensitivity to pain, congenital, with anhidrosis (CIPA)

    Isovaleric academia

    Jalili syndrome

    Joubert syndrome

    Joubert syndrome (JBTS)

    Joubert syndrome 2 (MKS2)

    Joubert syndrome type 6 (MSK3)

    Joubert syndrome-3

    Kindler syndrome

    Kohlschutter-Tonz syndrome

    Krabbe disease

    Laron dwarfism

     Laryngoonychocutaneous Syndrome

     Leber congenital amaurosis 1 , Cone-rod dystrophy 6

     Leber congenital amaurosis 13

     Leber congenital amaurosis 2

     Leber congenital amaurosis 4

     Leber congenital amaurosis 5

     Leber congenital amaurosis 8

     Leigh syndrome

     Leigh syndrome related to USMG5

     Leigh syndrome, due to COX deficiency

     Leprechaunism, Donohue syndrome

     Lethal congenital contractural syndrome 2

     Lethal congenital contractural syndrome 3

     Lethal congenital contracture syndrome 4

     Lethal congenital contracture syndrome 7

     Leukodystrophy and acquired microcephaly with or without dystonia

     Leukodystrophy, early onset spastic paraparesis, acquired microcephaly, optic atrophy and risk of early death

     Leukodystrophy, hypomyelinating, 3

     Leukodystrophy, hypomyelinating, 4, HLD4 (HSP60)

     Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

     LIFT, Liver failure infantile transient

     Limb-girdle muscular dystrophy

     Lissencephaly 7 with cerebellar hypoplasia

     Long-Chain hydroxylacyl-CoA dehydrogenase deficiency (LCHAD)

     Lymphoproliferative syndrome

    Macrocephaly, alopecia, cutis laxa, and scoliosis

     Mandibuloacral dysplasia with type B lipodystrophy

     Maple syrup urine disease, type Ia

     Maple syrup urine disease, type Ib

     Maple syrup urine disease, type II

     Meckel syndrome 1

     Meckel syndrome 11

     Meckel syndrome 4

     Meckel syndrome 5

     Meckel syndrome 8

     Medium-chain Acyl-CoA dehydrogenase deficiency

     Megalencephalic leukoencephalopathy with subcortical cysts

     Mental retardation, Autosomal Recessive 13

     Mental retardation, Autosomal Recessive 15

     Mental retardation, Autosomal Recessive 3 – MRT3

     Mental retardation, Autosomal Recessive 3 – MRT3

     Mental retardation, Autosomal Recessive 40

     Metachromatic leukodystrophy – MLD

     Methylmalonic acidemia, mut(0) type

     Methylmalonic aciduria and homocystinuria, cblC type

     Microcephalic osteodysplastic primordial dwarfism, type II

     Microcephaly 9, primary, Autosomal Recessive

     Microcephaly intellectual disability and dysmorphism

     Microcephaly, postnatal progressive, with seizures and brain atrophy ((ICCA)

     Microcephaly, primary, Autosomal Recessive

     Microcephaly, primary, Autosomal Recessive

     Microcephaly, seizures, spasticity, and brain calcification (MISSBC)

     Microcephaly, short stature, and impaired glucose metabolism

     Microphthalmia

     Microphthalmia, isolated 8

     Minicore myopathy with external ophthalmoplegia

     Mitochondrial complex I deficiency – NDUFA11 gene

     Mitochondrial complex I deficiency – NDUFAF5 gene

     Mitochondrial complex I deficiency – NDUFS6 gene

     Mitochondrial complex I deficiency-NDUFS2 gene

     Mitochondrial complex III deficiency, nuclear type 4

     Mitochondrial DNA depletion syndrome (hepatocerebral type)

     Mitochondrial DNA depletion syndrome 1 (MNGIE type)

     Mitochondrial DNA depletion syndrome 2 (myopathic type)

     Mitochondrial DNA depletion syndrome 5

     Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

     Mitochondrial DNA depletion syndrome 8

     Mitochondrial encephalomyopathy complex I deficiency

     Mitochondrial muscle myopathy

     Mitochondrial myopathy and sideroblastic anemia 1

     Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

     Molybdenum cofactor deficiency A

     Molybdenum cofactor deficiency Type B

     Mucociliary clearance disorder

     Mucolipidosis III alpha/beta

     Mucolipidosis III gamma

     Mucolipidosis type IV – ML4

     Mucopolysaccharidisis type IIIA (Sanfilippo A)

     Mucopolysaccharidosis Type IH – Hurler syndrome

     Mucopolysaccharidosis type IIIB (Sanfilippo B)

     Multiple congenital anomalies-hypotonia-seizures syndrome 1

     Multiple congenital anomalies-hypotonia-seizures syndrome 3

     Multiple sulfatase deficiency

     Muscular dystrophy, congenital, due to partial LAMA2 deficiency

     Muscular dystrophy, limb-girdle, type 2A

     Muscular dystrophy, limb-girdle, type 2B

     Muscular dystrophy, limb-girdle, type 2C

     Muscular dystrophy-dystroglycanopathy

     Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),

     Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 – Walker Warburg syndrome

     Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9

     Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)

     Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8)

     Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5

     Myasthenia gravis, congenital

     Myasthenic syndrome, congenital, 4B, fast-channel

     Myasthenic syndrome, congenital, 5

     Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

     Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

     Myopathy, congenital, progressive, with scoliosis

     Myopathy, myofibrillar, 7

     Myopia, high, with cataract and vitreoretinal degeneration

     Myotonia congenita, Autosomal Recessive

     Myotonia congenita,Autosomal Recessive

    Nemaline myopathy 2

     Nemaline myopathy 5, Amish type

     Nemaline myopathy 8, Autosomal Recessive

     Nephronophthisis 2, infantile

     Nephrotic syndrome

     Nephrotic syndrome type 1

     Nephrotic syndrome, type 8

     Netherton syndrome

     Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

     Neurodevelopmental, Cardiac, and Renal Syndrome

     Neuronal ceroid lipofuscinosis type 8, including northern epilepsy

     Neuronopathy, distal hereditary motor, type VI

     Neutropenia, severe congenital 4, Autosomal Recessive

     Neutropenia, severe congenital, 5, Autosomal Recessive

     Niemann-Pick disease type B, SMPD1-related

     Niemann-Pick disease type C1

     Night blindness, congenital stationary (complete), 1C, Autosomal Recessive

    Omodysplasia 1

     Ornithine transcarbamylase deficiency

     Osteogenesis imperfecta, type IX

     Osteogenesis imperfecta, type VII

     Osteogenesis imperfecta, type XI

     Osteogenesis imperfecta, type XIV

     Osteopetrosis, Autosomal Recessive 1

     Osteopetrosis, Autosomal Recessive 8

     Otospondylomegaepiphyseal dysplasia (ZW)

    Parkinson disease, early onset

     Pendred syndrome

     Periventricular heterotopia with microcephaly

     Peroxisome biogenesis disorder 1A (Zellweger)

     Peroxisome biogenesis disorder 4B (Zellweger syndrome)

     Peroxisome biogenesis disorder 5A (Zellweger)

     Phenylketonuria

     Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency

     Phosphoglycerate dehydrogenase deficiency

     Polyarteritis nodosa, childhood-onset

     Polycystic kidney & hepatic disease, PKHD1-related

     Pompe (Glycogen storage disease type II)

     Pontocerebellar hypoplasia type 1A

     Pontocerebellar hypoplasia type 2D

     Pontocerebellar hypoplasia, type 1B

     Pontocerebellar hypoplasia, type 1C

     Pontocerebellar hypoplasia, type 2E (PCCA2)

     Pontocerebellar hypoplasia, type 6

     Prolidase deficiency

     Propionic acidemia, PCCA-related

     Propionic acidemia, PCCB-related

     Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

     Proximal myopathy and ophthalmoplegia

     Pseudohypoaldosteronism type I – SCNN1A gene

     Pseudohypoaldosteronism type I – SCNN1B gene

     Pycnodysostosis

    Refsum disease

     Renal tubular acidosis (RTA), proximal, with ocular abnormalities and mental retardation

     Retinitis pigmentosa 1

     Retinitis pigmentosa 14

     Retinitis pigmentosa 25

     Retinitis pigmentosa 26

     Retinitis pigmentosa 27

     Retinitis pigmentosa 28

     Retinitis pigmentosa 36

     Retinitis pigmentosa 38

     Retinitis pigmentosa 43

     Retinitis pigmentosa 45

     Retinitis pigmentosa 49

     Retinitis pigmentosa 54

     Retinitis pigmentosa 57

     Retinitis pigmentosa 59

     Retinitis pigmentosa 62

     Retinitis pigmentosa 64

     Retinitis pigmentosa 69

     Retinitis pigmentosa 73

     Retinitis pigmentosa with intellectual disability

     Retinitis pigmentosa-40

     Rhizomelic chondrodysplasia punctata type 1

     Rickets, vitamin D-resistant, type IIA

     Roberts-SC phocomelia syndrome

    Sandhoff disease, infantile, juvenile, and adult forms

     Schimke immunoosseous dysplasia

     SCID, autosomal recessive, T-negative/B-positive type

     SESAME syndrome

     Severe combined immudeficiency, B cell-negative, RAG1-related

     Severe combined immudeficiency, B cell-negative, RAG2-related

     Severe combined immudeficiency, B cell-negative, RAG2-related

     Severe combined immunodeficiency due to ADA deficiency

     Severe combined immunodeficiency, Athabascan type

     Severe congenital neutropenia type 3 (SCN3), a.k.a. Kostmann disease

     Short stature, developmental delay, and congenital heart defects

     Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

     Sialic acid storage disorder, infantile (ISSD)

     Smith Lemli Opitz syndrome

     Spastic ataxia 2, Autosomal Recessive

     Spastic paraplegia 11, Autosomal Recessive

     Spastic paraplegia 35, Autosomal Recessive

     Spastic paraplegia 47, Autosomal Recessive

     Spastic paraplegia 49, Autosomal Recessive

     Spastic paraplegia 53, Autosomal Recessive

     Spastic paraplegia 55, Autosomal Recessive

     Spastic paraplegia 5A, Autosomal Recessive

     Spastic paraplegia 74, Autosomal Recessive

     Spastic paraplegia, complicated

     Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

     Spinal muscular atrophy-1

     Spondylocostal dysostosis 1, Autosomal Recessive

     Spondyloenchondrodysplasia with immune dysregulation

     Spondyloepimetaphyseal dysplasia

     Spondyloepimetaphyseal dysplasia (Shohat-type)

     Spondylometaepiphyseal dysplasia, short limb-hand type

     Striatonigral degeneration, Infantile Bilateral Striatal Necrosis (IBSN)

     Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome-LIFR related

    Tay-Sachs disease

     Thiamine-responsive megaloblastic anemia syndrome

     Thrombocytopenia, congenital amegakaryocytic

     Thyrosinemia type III

     Tumoral calcinosis, familial, normophosphatemic

     Tumoral calcinosis, hyperphosphatemic, familial

     Tyrosinemia, type I

    Urbach-Wiethe disease

     Usher Syndrome Type ID

     Usher syndrome, type 1B

     Usher syndrome, type 1C

     Usher syndrome, type 1F

     Usher syndrome, type 1G

     Usher syndrome, type 2A

     Usher syndrome, type 2C

     Usher syndrome, type 3A

     Usher syndrome, type IV

    Ventricular tachycardia, catecholaminergic polymorphic, 2

     Ventriculomegaly with cystic kidney disease

     Vici syndrome

     Vitroretinal vascular malformations, congenital

    Walker-Warburg Syndrome, type A, 1

     Walker-Warburg Syndrome, type A, 2

     Warsaw breakage syndrome

     Werner syndrome

     Wilson disease

     Wolfram-like syndrome, Autosomal Dominant

     Wolman disease

     Woodhouse-Sakati syndome

    Xeroderma pigmentosum, group C

     Xeroderma pigmentosum, group D

     Xeroderma pigmentosum/Cockayne

     X-linked adrenoleukodystrophy

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