Nuove politiche per l'innovazione nel settore delle scienze della vita


Nuove politiche per l'innovazione nel settore delle scienze della vita

excavatum and rib and scapular


demyelinating Type 1A

Cardiomyopathy cataract hip spine

Hereditary motor and sensory

disease Apple peel syndrome Lewy body dementia mild Campomelic dysplasia neuropathy 1A

demyelinating Type 1A Charcot-

Cardiomyopathy diabetes deafness Congenital intestinal atresia DLBD Campomelic dysplasia mild Marie-Tooth disease

Cardiomyopathy dilated with

Autosomal dominant diffuse Lewy Skeletal dysplasia related to Type 1B Charcot-Marie-Tooth

conduction defect Jejunal atresia

body disease

campomelic dysplasia


Cardiomyopathy dilated with

Familial ataxia deafness and

demyelinating Type 1B Charcotconduction

defect type 1

developmental delay Diffuse Lewy body disease Pierre Robin syndrome

Marie-Tooth disease

Cardiomyopathy dilated with

hearing loss and mental Leyden-Moebius muscular

Pierre Robin syndrome and Hereditary motor and sensory

conduction defect type 2

retardation Ataxia



neuropathy 1B

Cardiomyopathy dilated with Woolly deafness and developmental

hair and keratoderma

woolly hair and dilated

delay Familial ataxia pelvofemoral Muscular dystrophy Robin sequence and oligodactyly HMSN 1B

cardiomyopathy Epidermolytic Ataxia-deafness-retardation Limb-girdle muscular dystrophy type Pierre Robin syndrome skeletal Charcot-Marie-Tooth disease

palmoplantar keratoderma



dysplasia polydactyly

Pierre Robin syndrome with

demyelinating Type 1B

Reardon Wilson Cavanagh

congenital heart malformation and

Carvajal syndrome

syndrome Muscular dystrophy pelvofemoral clubfoot Peroneal muscular atrophy

Ataxia hearing loss and mental

type 1b Isolated growth hormone


Epidermolytic palmoplantar

retardation Calpainopathy TARP syndrome


keratoderma woolly hair and dilated

Limb-girdle muscular dystrophy type


Palmoplantar keratoderma with left

ADR syndrome

2 TARPS Pituitary dwarfism 1

ventricular cardiomyopathy and familial autosomal dominant

Growth hormone deficiency isolated

woolly hair

Exudative vitreoretinopathy LGMD2A Pierson syndrome

autosomal recessive

Cardiomyopathy due to

Microcoria and congenital

Nanism due to growth hormone

anthracyclines autosomal dominant FEVR Leydig cell hypoplasia

nephrotic syndrome

isolated deficiency

Cardiomyopathy hearing loss type t

LH resistance due to LH receptor

Isolated growth hormone deficiency

RNA lysine gene mutation FEVR autosomal dominant inactivation Pigment anomaly

type 1b

Cardiomyopathy hypogonadism Exudative vitreoretinopathy Male pseudohermaphroditism due to Acro-Dermato-Ungual-Lacrimalcollagenoma


Cardiomyopathy hypogonadism

familial autosomal dominant LH defects

Tooth syndrome Primordial dwarfism

metabolic anomalies Criswick-Schepens syndrome Leydig cells hypoplasia pigmentary anomaly Sexual ateleiotic dwarfism

isolated autosomal recessive Growth

Cardiomyopathy spherocytosis

Cardiomyopathy with myopathy due

ad FEVR LFS1 pigmentary defects

hormone deficiency

to COX deficency Exudative vitreoretinopathy 1

familial autosomal dominant

Li Fraumeni syndrome Terminal osseous dysplasia type 1B Usher syndrome


Mitral valve prolapse SBLA syndrome pigmentary dermopathy type 1D Usher syndrome

Sarcoma family syndrome of Li and

Type 1E Charcot-Marie-Tooth

megalocornea Familial band heterotopia Fraumeni Whyte-Murphy syndrome


Cassia Stocco dos Santos syndrome Familial benign hypocupremia LGLL white forelock type 1E Usher syndrome

familial benign Copper

T-cell large granular lymphocyte Pigmentary disorder with hearing

Cardioskeletal myopathy-neutropenia deficiency

Familial benign recurrent


loss USH1E

cardiovascular calcification

vertigo Large granular lymphocyte leukemia Ermine phenotype

Cutaneous albinism hermine

type 1F Usher syndrome

Carinatum deformity of the chest bppv LGMD- autosomal recessive phenotype type 2 Alpha-mannosidosis

Chicken breast - chondrogladiolar

adult-onset form Alpha-

(subtype) Familial vestibulopathy Limb-girdle muscular dystrophy O Doherty syndrome


Benign paroxysmal positional Limb-girdle muscular dystrophy

Alpha-mannosidosis adult-onset

Pectus carinatum

Pouter pigeon breast -


autosomal recessive Pigmentary retinopathy


chondromanubrial (subtype) B.P.P.V. LGMD1 Pigment-dispersion syndrome type 2 Amaurosis congenita of Leber

familial bilateral Optic nerve limb-girdle type 1A Muscular Pigmented dermatofibrosarcoma

Carnevale canun mendoza syndrome hypoplasia


protuberans Leber congenital amaurosis type 2

Carnevale Hernandez Castillo

proximal type 1A Muscular

syndrome Familial Burkitt's lymphoma dystrophy bednar's tumor LCA2

Triphalyngeal thumbs and

Muscular dystrophy proximal type

brachyectrodactyly Burkitt lymphoma

1A Pili annulati type 2 Aniridia

Carnevale-Krajewska-Fischetto Familial capillaro-venous


leptomeningeal angiomatosis LGMD2H Ringed hair AN2

familial Cardiac conduction Limb-girdle muscular dystrophy type

rectus abdominis diastasis


2H Pili bifurcati type 2 Arnold-Chiari malformation

Familial cerebral cavernous

type 2 Autosomal dominant

Carney complex type 1

angioma Muscular dystrophy Hutterite type Pili canulati

cerebellar ataxia

Familial cerebral cavernous Muscular dystrophy limb-girdle type Pili torti developmental delay

Carney myxoma-endocrine complex malformation

Familial cavernous


neurological abnormalities OPCA3


hemangioma Sarcotubular myopathy Pili torti and developmental delay type 2 ADCA

limb-girdle type 2H Muscular

Autosomal dominant cerebellar

NAME syndrome familial Cholemia

dystrophy Pili torti onychodysplasia

ataxia type 2

spotty pigmentation and endocrine Familial chronic

overactivity Myxoma

mucocutaneous candidiasis

autosomal recessive

LGMD2K Twisted hair with nail dysplasias Spinocerebellar ataxia 7

Candidiasis familial chronic

OPCA with macular degeneration

LAMB syndrome


Familial Cold Autoinflamatory

LHON Pilli Annulati

and external ophthalmoplegia

type 1 Carney complex

Syndrome (FCAS) LeberÆs disease Ringed hair disease Olivopontocerebellar atrophy 3

Myxoma spotty pigmentation and

Pilo dento ungular dysplasia

endocrine overactivity Familial cold urticaria Optic atrophy Leber type

microcephaly SCA7

Carney-Stratakis syndrome fcu Leber hereditary optic neuropathy Tajara pinheiro syndrome ADCA type 2

Carney dyad Familial Colorectal Cancer

Familial congenital cornea

guttata with anterior polar

Leber type Optic atrophy Pilomatricoma OPCA with retinal degeneration

Carnitine brain transporter deficiency cataracts (type)

Cornea guttata with anterior

Leber optic atrophy Calcifying epithelioma of Malherbe type 2 Bourneville syndrome

Carnitine uptake deficiency

polar cataract LI2 Pilomatrixoma type 2 Camurati Engelmann disease

Carnitine palmitoyl transferase 1

Progressive diaphyseal dysplasia

deficiency familial Cushing syndrome Ichthyosis lamellar 2 PTR

with striations of the bones

Carnitine transporter deficiency Familial Cushing's syndrome ICR2B Pilotto syndrome CED2

Carnitine-acylcarnitine translocase Familial cyclic vomiting

type 2 Corneal dystrophy of the


syndrome (subtype) Type 2 lamellar ichthyosis Pineal gland tumor

Bowman layer

Carnosinase deficiency Cyclic vomiting syndrome Ichthyosis congenita 2B Pineal Teratoma Thiel-Behnke corneal dystrophy

Corneal dystrophy honeycomb-

Carnosinemia Familial deafness Lichen myxoedematosus Pingelapese


Caroli disease isolated Familial dementia Lichen sclerosus et atrophicus Total colorblindness with myopia CDB2


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