Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

corriere

Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

hypotonia

Acadian variety Usher syndrome

Congenital defect of skull and

scalp McArdle disease

McArdle type glycogen storage

Triiodothyronine resistence Ring 15 Chromosome

Usher syndrome Acadian variety congenital Scalp defect disease Allan-Herndon syndrome Ring 15

Ring 15 Chromosome (mosaic

type 1C Usher syndrome Scalp defect congenital GSD 6 T3 resisitence

pattern)

Phosphorylase deficiency glycogen- Mental retardation and muscular

ACADL deficiency Aplasia cutis congenita storage disease of liver

atrophy Chromosome 15 ring

Long-chain acyl-CoA dehydrogenase Familial aplasia cutis congenita

deficiency

of the scalp (subtype) Glycogen storage disease type 6 Monodactyly tetramelic Chromosome Ring 15

Chromosome (mosaic pattern) Ring

LCAD deficiency Aplasia cutis of the scalp Hers disease Monomelic amyotrophy

15

congenital deficiency of

Spinal muscular atrophy juvenile

Acalculous cholecystitis

Intrinsic factor

Congenital diaphragmatic

GSD2B

nonprogressive Ring 18

ACC

hernia Glycogen storage disease type 2B Mononen Karnes Senac syndrome Chromosome 18 ring

Gallstone cholecystitis Agenesis of hemidiaphragm Pseudoglycogenosis 2 Mononeuritis multiplex Ring Chromosome 18

Congenital diaphragmatic X-linked vacuolar cardiomyopathy

Acalvaria

defect

and myopathy MNM Ring chromosome 10

Acrania CDH Danon disease

Lysosomal glycogen storage

MM:6 Chromosome 10 ring

Unilateral agenesis of disease without acid maltase

Acanthamoeba infection

diaphragm

deficiency monosomy 3p Chromosome 3 Ring chromosome 11

Congenital disorder of Glycogen storage disease limited to

Acanthokeratodermia

glycosylation type 1H

the heart Monosomy 3p Ring Chromosome 14

Acanthoma CDG 1H Glycogen storage cardiomyopathy Chromosome 3 deletion 3p Ring 14

Acardia CDG1H

Congenital disorder of

Antopol disease Deletion 3p r(14)

Acatalasemia Swiss type

glycosylation type 1L GTN deletion 3p Chromosome 3 Chromosome 14 ring

Acatalasemia CDG 1L GTP cyclohydrolase deficiency Monosomy 10pter

Chromosome 10p terminal

Ring chromosome 15

Catalase deficiency CDG1L

Congenital Disorders of

GTPCH deficiency

deletion syndrome Ring chromosome 16

Acatalasia

Glycosylation GTP cyclohydrolase I deficiency Deletion 10p Ring chromosome 2

congenital dyserythropoietic Guadalajara camptodactyly

Acatalasemia Japanese type anaemia

syndrome type 2 10p deletion syndrome Ring chromosome 20

congenital Dyserythropoietic Camptodactyly syndrome

Accessory navicular bone

anemia

Guadalajara type 2 Monosomy 10q RC20

Congenital dyserythropoietic Guanidinoacetate methyltransferase Terminal deletion of chromosome

Accessory pancreas

anemia type 1

congenital type 1

deficiency

10q Ring chromosome 21

ACD

Dyserythropoietic anemia

Anemia dyserythropoietic

GAMT deficiency monosomy 10q Chromosome 10 Ring chromosome 22

Opitz Mollica Sorge syndrome congenital type 1

Type I congenital

Guibaud-Vainsel syndrome 10q- deletion Ring chromosome 3

AFD Catania type

dyserythropoietic anemia

dyserythropoietic congenital

Carbonic anhydrase II deficiency Deletion 10q Ring chromosome 4

Catania type AFD

type 1 Anemia Guillain-BarrT syndrome

Guizar Vasquez Sanchez Manzano

Monosomy 11p Ring chromosome 6

ACD mental retardation syndrome Congenital dysplasia of hip syndrome deletion 11p Chromosome 11 Ring chromosome 6 syndrome

Alopecia contractures dwarfism

Unusual facies pectus carinatum

mental retardation Hip dislocation

joint laxity Deletion 11p Chromosome 6 ring syndrome

Alopecia-contractures-dwarfism Congenital ectodermal Guizar-Vazquez Luengas-Munoz

mental retardation syndrome dysplasia with hearing loss

Hidrotic ectodermal dysplasia

syndrome Monosomy 11q partial Chromosome Ring 6

Acetocoenzyme A acetyltransferase sensorineural hearing loss and

2 deficiency

contracture of the fifth fingers

sensorineural hearing loss and

contracture of the fifth fingers

Bilateral corneal dermoids (subtype) Deletion 11q partial R(6) syndrome

ACAT2 deficiency

Cytosolic acetoacetyl-CoA thiolase

Hidrotic ectodermal dysplasia Corneal dermoids and short stature Chromosome 11q partial deletion Ring 6 Chromosome

deficiency Mikaelian syndrome Dermoids of cornea Monosomy 12p Ring 6

Acetyl-coa acetyltransferase 2

GuizarVazquez-Sanchez-Manzano

deficiency Congenital ectropion uveae

Congenital esophageal

syndrome Chromosome 12p deletion Ring chromosome 8

Acetylcarnitine deficiency

Acetyl-CoA alpha-glucosaminide N-

diverticulum joint laxity Deletion 12p Chromosome 8 ring

acetyltransferase deficiency (Type 3 congenital essential

C)

Hemeralopia Gupta Patton syndrome Monosomy 14q31 Ring 8

congenital Factor VIII

Microtia meatal atresia deafness

Sanfilippo syndrome

deficiency

dominant Deletion 14q11 Ring chromosome 9

Mucopolysaccharidosis type 3

Microtia with meatal atresia and

(subtypes A - B - C - D)

Heparan sulfate sulfatase deficiency

congenital Factor 8 deficiency conductive deafness partial deletions Chromosome 14q Rippling muscle disease

(Type 3 A) congenital Hemophilia A Gurrieri Sammito Bellussi syndrome Monosomy 14q11 Rivera Perez Salas syndrome

N-acetylglucosamine-6-sulfate

Skeletal dysplasia epilepsy short

sulfatase deficiency (Type 3 D)

N-acetylglucosaminidase deficiency

Factor 8 deficiency congenital stature Deletion 14q31 Thoraco limb dysplasia Rivera type

(Type 3 B) Hemophilia classic Gurrieri syndrome Monosomy 17p13.3 RLF

Acetyl-CoA alpha-glucosaminide-N- Factor VIII deficiency

acetyl transferase deficiency congenital Gurrieri-Sammito-Bellussi syndrome Telomeric deletion 17p Retrolental fibroplasia

N-acetyl-alpha-glucosaminidase

Lissencephaly due to 17p13.3

sulfamidase deficiency

N-acetyl-glucosamine-6-sulfate

congenital Factor X deficiency Gusher syndrome

deletion ROP

sulfatase deficiency congenital Factor XI deficiency

Congenital familial

gyrate atrophy of choroid and retina Monosomy 17q21.31 Retinopathy of prematurity

Sanfilippo disease

hypertrophic synovitis

Camptodactyly-arthropathy-

OAT deficiency Microdeletion 17q21.31 RLS 5

coxa vara-pericarditis

susceptibility to 5 Restless legs

achalasia

syndrome Gyrate atrophy Monosomy 17qter

syndrome

Camptodactyly arthropathy Ornithine aminotransferase

Achalasia alacrimia syndrome pericarditis syndrome deficiency Telomeric deletion 17q RLS2

Hyperornithinemia with gyrate

susceptibility to 2 Restless legs

Infantile achalasia with alacrima Fibrosing serositis familial

Arthropathy camptodactyly

atrophy of choroid and retina Distal monosomy 17q

syndrome

Achalasia microcephaly

syndrome OKT deficiency Distal deletion 17q RLS3

Ornithine ketoacid aminotransferase

susceptibility to 3 Restless legs

Achalasia microcephaly syndrome PAC syndrome

deficiency Monosomy 18 mosaicism syndrome

Achalasia-addisonianism-alacrima Pericarditis arthropathy H influenzae Chromosome 18 mosaic RM

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