Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

corriere

Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

ADVIRC

autosomal dominant with sensory

Duplication 1q42 11 q42 12 Interdigitating dendritic cell sarcoma Oguchi's syndrome

Antigen-peptide-transporter 2

deficiency

axonal neuropathy Spinocerebellar q42 11 q42 12 duplication

Ohdo Blepharophimosis

ataxia

Spinocerebellar ataxia autosomal

dominant with sensory axonal

Chromosome 1 Reticulum cell sarcoma

syndrome Tardive oral dyskinesia

neuropathy Trisomy 1q42 11 q42 12 Internal carotid agenesis OHS TDk

duplication 20p Chromosome Interstitial cystitis/Bladder pain

Spinocerebellar ataxia 4

autosomal recessive 3

20

syndrome Ohtahara syndrome Oral-facial dyskinesia

Spinocerebellar ataxia Trisomy 20p Interstitial cystitis OI type 7 Linguofacial dyskinesia

SCABD

Spinocerebellar ataxia with blindness

Duplication 20p Interstitial lung disease type 7 Osteogenesis imperfecta Tardive dyskinesia

and deafness Duplication 2pter p24

trisomy 2pter p24

Respiratory bronchiolitis type 7 OI Tardive dystonia

SCAR3

Autosomal recessive adducted

Chromosome 2 ILD Okamoto syndrome tarsal carpal and digital Synostoses

thumb-club foot syndrome Trisomy 2pter p24 Interstitial megalocytic nephritis Okamoto type Premature aging Calcaneonavicular coalition

Adducted thumb and clubfoot

Transplant megalocytic interstitial

syndrome Duplication 2q

nephritis (type) Okamuto Satomura syndrome Tarsal-carpal coalition syndrome

autosomal recessive congenital 2

Oklahoma variant Familial benign

Cataract Trisomy 2q Megalocytic interstitial nephritis hypercalcemia TAU syndrome

familial type 3 Hypocalciuric Thrombocytopenia absent ulnar

CATC2 trisomy 2q Chromosome 2 Interstitial pneumonia

hypercalcemia

syndrome

autosomal recessive DOPA

Familial benign hypercalcemia

responsive dystonia

DOPA responsive autosomal

Duplication 3p Intervertebral disc disease

Oklahoma variant taurinuria

recessive Dystonia

infantile autosomal recessive

trisomy 3p Chromosome 3 IVDD FBHOk Taurodontia

Parkinsonism Trisomy 3p Intestinal atresia multiple HHC3 absent teeth

autosomal recessive Segawa

type 3 Familial benign

syndrome

Parkinsonism infantile autosomal

Duplication 3p25 intestinal hypoperistalsis

hypercalcemia Sparse hair

recessive trisomy 3p25 Chromosome 3 Megacystis microcolon FBH3 Tay syndrome

Dystonia DOPA responsive

Intestinal malrotation facial

Hypercalcemia familial benign type Trichothiodystrophy with congenital

autosomal recessive Trisomy 3p25

anomalies familial type

3

ichtyosis

DOPA responsive dystonia

intestinal pseudoobstruction and familial benign type 3

autosomal recessive Duplication 3q

patent ductus Natal teeth

Intestinal Pseudoobstruction with

Hypercalcemia IBIDS syndrome

autosomal recessive Exsudative

Patent Ductus Arteriosus and Natal Familial benign hypercalcemia

retinopathy familial Trisomy 3q

Teeth

type 3 tcc

autosomal recessive Ichthyosis with

Intestinal pseudoobstruction with familial benign Oklahoma type

hypotrichosis trisomy 3q Chromosome 3 external ophthalmoplegia

Hypercalcemia Tarsal carpal coalition syndrome

Visceral myopathy familial external Hypercalcemia familial benign

ARIH

Autosomal recessive lethal

Duplication 4p Syndrome ophthalmoplegia

Oklahoma type TCCa

chondrodystrophy with congenital Partial Trisomy 4p

Muscular dystrophy

hydrops

Chromosome 4

oculogastrointestinal OLEP Transitional cell carcinoma

Hydrops Ectopic calcification Moth- Chromosome 4 Partial Trisomy

T-cell large granular lymphocyte

eaten skeletal dysplasia

4p Intracardiac myxoma Oral leukoplakia

Oligoarthritis with antinuclear

leukaemia

Greenberg dysplasia Trisomy 4p Chromosome 4 familial Atrial myxoma

factors T-cell LGL leukaemia

HEM dysplasia Duplication 4p Intracavitary tumors

Myocardial tumors (rhabdomyomas

Oligoarticular chronic arthritis T-cell chronic lymphocytic leukaemia

Greenberg Skeletal Dysplasia

Ectopic calcification Moth-eaten

Duplication 5p

and fibromas) Oligocone trichromacy T-cell lymphoma 1A

skeletal dysplasia Hydrops Trisomy 5p Primary cardiac tumors childhood Oligocone syndrome TCL1A

Autosomal recessive osteopetrosis

autosomal recessive Robinow

Duplication 7q Heart tumor Oligodactyly tetramelic postaxial T-cell prolymphocytic leukaemia

syndrome trisomy 7q Chromosome 7 childhood Primary cardiac tumors Oligodendroglioma TCP

Covesdem syndrome (formerly) Trisomy 7q intracerebral calcification Oligomeganephronia Tropical calcific chronic pancreatitis

Costovertebral segmentation defect

Bonnemann-Meinecke-Reich Oligomeganephronic renal

with mesomelia (formerly)

autosomal recessive Spastic

Duplication 7q11

syndrome

hypoplasia tdo syndrome

paraplegia 11 Trisomy 7q11 Intracerebral haemorrhage Oligomeganephrony Tricho-dento-osseous syndrome

Enamel hypoplasia and

hypocalcification with associated

SPG11

Autosomal recessive hereditary

Duplication 8q/deletion 8p Intracranial aneurysms Oligophernia

strikingly curly hair

spastic paraplegia complicated with a

Intracranial aneurysms multiple

thin corpus callosum

complicated with a thin corpus

callosum Autosomal recessive

Duplication 9

congenital anomaly Oliver syndrome TDO

hereditary spastic paraplegia Trisomy 9 Intracranial arachnoid cysts Olivopontocerebellar atrophies TDO syndrome 1

autosomal recessive Spastic

Olivopontocerebellar atrophy

paraplegia 15 trisomy Chromosome 9 Arachnoid cysts intracranial deafness Tricho-dento-osseous syndrome 1

Spastic paraplegia and retinal duplication 9q21 Chromosome

Olivopontocerebellar atrophy

degeneration

9 ICACs

Holguin type Teebi al saleh hassoon syndrome

Recessive spastic paraplegia with

Intracranial arterioveinous

retinal degeneration Duplication 9q21

malformation SDSEM Teebi hypertelorism syndrome

Intracranial arteriovenous

Holguin type Olivopontocerebellar

Kjellin syndrome Disomy 9q21

malformation

atrophy Hypertelorism Teebi type

SPG15

autosomal recessive Spondylocostal

Duplication 9q32 iAVM Olivopontocerebellar atrophy 2 Teebi type Hypertelorism

dysostosis

autosomal recessive type

Trisomy 9q32 ICAVM Spinocerebellar atrophy 2 Brachycephalofrontonasal dysplasia

Craniometaphyseal dysplasia trisomy 9q32 Chromosome 9 Intracranial germ cell tumour Spinocerebellar ataxia 2 Teebi Kaurah syndrome

Total anonychia congenita and

autosomal recessive with axonal

microcephaly with normal

neuropathy Spinocerebellar ataxia duplication Chromosome 17 Germinoma of the brain Wadia Swami syndrome

intelligence

SCAN1 Duplication of leg mirror foot Intractable diarrhoea Cuban type Spinocerebellar ataxia Teebi Shaltout syndrome

autosomal Sideroblastic anemia Duplication of the esophagus Intestinal epithelial dysplasia Spinocerebellar ataxia Cuban type Teebi syndrome

Sideroblastic anemia autosomal Duplication of the thumb

Spinocerebellar ataxia with slow Teeth congenital absence of with

recessive inheritance

unilateral biphalangeal Tufting enteropathy

eye movements

taurodontia and sparse hair

autosomal recessive inheritance

Spinocerebellar degeneration with

Sideroblastic anemia

Axenfeld-Rieger anomaly with

Duplication of urethra Intractable diarrhoea of infancy slow eye movements Taurodontia absent teeth sparse hair

cardiac defects and sensorineural

congenital absence of with

hearing loss Duplication Xpter Xq13 Intractable singultus SCA 2

taurodontia and sparse hair Teeth

214

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