Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

De la Chapelle dysplasia Deletion Xp22 ter Glomerulonephritis IGA

Noonan neurofibromatosis

syndrome Succinic acidemia

Succinic acidemia lactic acidosis

Neonatal osseous dysplasia I Distal myopathy

Distal myopathy with posterior

Berger disease nfns


leg and anterior upper limb

Neurofibromatosis-Noonan Succinyl-CoA acetoacetate

Atelosteogenesis III

involvement IGA type Nephritis


transferase deficiency

Distal myopathy with vocal

Neurofibromatosis with Noonan Succinyl-CoA:3-oxoacid CoA

Athabaskan brainstem dysgenesis cord weakness IGF-1


transferase deficiency

Growth delay due to insulin-like

Ketoacidosis due to SCOT

Navajo brainstem syndrome

Athabaskan brainstem dysgenesis

distal phalangeal hypoplasia growth factor I resistance NF-NS


syndrome Distal primary acidosis IGM Noonan syndrome SCOT deficiency

Athetosis Distal tetrasomy 15q Granulomatous mastitis Female pseudo-Turner syndrome Sucrose intolerance

Atlantoaxial joint fusion Distal trisomy 10p Idiopathic granulomatous mastitis Male Turner syndrome

Turner phenotype with normal

Sucrase-isomaltose malabsorption

ATP synthetase deficiency Trisomy 10pter IHCC

karyotype Sucrase-isomaltase deficiency

Atresia of urethra Telomeric duplication 10p Intrahepatic cholangiocarcinoma NS1

normal hair and normal hands

Disaccharide intolerance

Atrial cardiomyopathy with heart

Metaphyseal chondrodysplasia Sucrose isomaltose enzyme

block Distal duplication 10p Curth-Macklin type ichthyosis hystrix with cone-shaped epiphyses

Cupped metaphyses and cone-


shaped epiphyses without Congenital sucrose isomaltose

Atrial fibrillation Distal trisomy 10q Curth Macklin type Ichthyosis hystrix alopecia or brachydactyly

Norman-Roberts type


Atrial myxoma Trisomy 10qter IHES

Lissencephaly syndrome Sudanophilic leukodystrophy

Idiopathic hypereosinophilic Lissencephaly syndrome Norman- Pelizaeus-Merzbacher brain

myxoid neurofibromata Telomeric duplication 10q syndrome

Roberts type

Norman Roberts lissencephaly


Atrial septal defect Distal trisomy 11q IHG

syndrome Brain sclerosis

Septum auriculaire Distal duplication 11q Iris hypoplasia and glaucoma Normokalemic periodic paralysis Sudden Arrhythmia Death Syndrome

Interauricular communication Trisomy 11qter IHOA

Idiopathic hypertrophic

North carolina macular dystrophy Sudden infant death syndrome

Atrial septal defect 2 Telomeric duplication 11q osteoarthropathy NCMD SIDSp

Atrial septal defect atrioventricular

central Retinal pigment epithelial

conduction Distal trisomy 14q Pachydermoperiostosis

dystrophy Sudden onset scleroderma

Primary hypertrophic

Retinal pigment epithelial

atrial septal defects Telomeric duplication 14q osteoarthropathy

dystrophy central

retinal 1 North Carolina type


facial changes

Atrial tachyarrhythmia with short pr

Distal duplication 14q PDP

Macular dystrophy SSC

interval Distal trisomy 1q IIAC

Idiopathic infantile arterial

progressive Foveal dystrophy Systemic sclerosis

atrichia Distal duplication 1q

calcification caped Systemic scleroderma

Generalized arterial calcification in Central areolar pigment epithelial

mental and growth delay Trisomy 1qter


dystrophy 1SSc

Atrichia with papular lesions Telomeric duplication 1q Arterial calcification of infancy Foveal dystrophy progressive dSSc

Atrichie papulaire Distal trisomy 2p Occlusive infantile arteriopathy Nose agenesia diffuse Scleroderma

Atrioventricular block Trisomy 2pter Iida Kannari syndrome Arrhinia Sujansky-Leonard syndrome

AVB Telomeric duplication 2p IIH Congenital absence of the nose VACTERL with hydrocephalus

atrioventricular canal Distal duplication 2p Intracranial hypertension Notalgia paresthetica Sulfatidosis juvenile

distal type 2 Arthrogryposis Idiopathic intracranial hypertension

Atrioventricular septal defect multiplex congenita

with papilledema NPHL2 Sulfocysteinuria

AVC type 2 Distal arthrogryposis

Congenital contractures with

Intracranial hypertension idiopathic Dent disease 1 Sulfite oxidase deficiency

major involvement of the hands

Nephrolithiasis hypercalciuria x- Summerskill-Walshe-Tygstrup

Atrophia aerata

and feet Pseudotumor cerebri


hypercalciuria x-linked


Sveinsson's chorioretinal atrophy Distal arthrogryposis type 2 BICH

Nephrolithiasis bric

Helicoid peripapillary chorioretinal distal type 3 Renal tubular

Benign recurrent intrahepatic


acidosis Benign intracranial hypertension Nephrolithiasis 2


Atrophia bulborum hereditaria bicarbonate-wasting type RTA BIH NS3.1 Summitt's acrocephalosyndactyly

Recessive acrocephalosyndactyly

Norrie syndrome RTA bicarbonate-wasting type idiopathic Intracranial hypertension NS3

with normal intelligence

Norrie-Warburg syndrome dislocation type RTA Illum syndrome NS3-105 Summitt syndrome

Norrie disease RTA dislocation type Ilyina Amoashy Grygory syndrome Noonan syndrome 3 sun sensitivity

Episkopi blindness Bicarbonate-wasting RTA

distal type 4 Renal tubular

IMAGe syndrome NSLCLC Trichothiodystrophy type F

Atrophie blanche

acidosis adrenal hypoplasia congenita Non-small cell lung cancer SUNCT headache

Short-lasting Unilateral Neuralgiform

Muscular dystrophy white matter

headache attacks with Conjunctival

spongiosis distal type 6 Arthrogryposis IMCNS NSLC

injection and Tearing

Unilateral Neuralgiform headache

Familial hand abnormality and

attacks with Conjunctival injection

Atrophoderma of Pierini and Pasini sensori-neural deafness Minimal change nephrotic syndrome NSCLC

and Tearing Short-lasting

Superficial annular corneal dystrophy

Idiopathic atrophoderma of Pasini

Idiopathic minimal change nephrotic

ichthyosis nigrans microcephaly and

and Pierini Arthrogryposis distal type 6 syndrome NSCLCA

mild mental subnormality

ichthyosis nigrans microcephaly and

Congenital atrophoderma of Pasini

mild mental subnormality Superficial

and Pierini DA6

Arthrogryposis-like hand


annular corneal dystrophy

anomaly and sensorineural

Superficial siderosis of the central

Atrophoderma vermiculata


distal with hypopituitarism

Minimal change glomerulopathy Nystagmus congenital motor 2 nervous system

mental retardation and facial

congenital autosomal dominant

Folliculitis ulerythematosa reticulate anomalies Arthrogryposis

distal with microdontia dental

pulp stones and narrowed

zygomatic arch

Minimal Change Disease

Nystagmus 2 Superior caval vein

ATRUS syndrome

Symphalangism Iminoglycinuria motor 2 Nystagmus congenital Superior mesenteric artery syndrome

distal X-linked Arthrogryposis Immune defect due to absence of

Vascular compression of the


multiplex congenita

thymus Nystagmus

Nystagmus macrostoma low set


AMME syndrome distal X-linked AMC T-lymphocyte deficiency

ears and brachydactyly

macrostoma low set ears and

Wilkie syndrome

midface hypoplasia AMC distal X-linked Nezelof syndrome

brachydactyly Nystagmus Supernumerary nipples

AMME complex distichiasis Thymic aplasia Maumenee syndrome Accessory nipples


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