Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

Central serous chorioretinopathy

Polyglucosan body disease adult

after bone marrow transplantation familial Renal carcinoma Lubs type XLMR syndrome form Ullrich

CSCHR Familial schizencephaly MRXSL

Mental retardation X-linked Lubs

adult Polyglucosan body disease Ullrich-Turner syndrome

central type Neurofibromatosis Schizencephaly


Lubs X-linked mental retardation adult form Polyglucosan body

bilateral Acoustic neurinoma Familial spasmodic torticollis syndrome

disease Turner's syndrome

Neurofibromatosis type II familial Torticollis XLMR syndrome Lubs type APBD Turner syndrome

Familial spastic paraplegia X-linked Lubs type Mental

Polymicrogyria turricephaly

Neurofibromatosis central type autosomal dominant 2

Autosomal dominant spastic


hypogenitalism Bonnevie-Ullrich Syndrome

Neurofibromatosis type 2

paraplegia 4

spastic paraplegia 4 Autosomal

Lubs-Arena Syndrome Polymorphic macular degeneration UTS

Acoustic schwannomas bilateral dominant Recurrent infections Polymorphic reticulosis Ulna hypoplasia mental retardation

Ulna metaphyseal dysplasia

bilateral Acoustic schwannomas familial Stomach cancer Lucey driscoll syndrome Polymyoclonus infantile


Hereditary bone dysplasia with

characteristic bowing and thickening

Acoustic neurinoma bilateral Familial subependymomas Lucky Gelehrter syndrome infantile Polymyoclonus

of the distal ulna

dancing feet syndrome Dancing Metaphyseal chondroplasia

BANF Subependymoma Lujan-Fryns syndrome


Rosenberg type

umbilical anomalies and soft palate

agenesis Dominant mesomelic

Dancing eyes dancing feet shortness of stature with acral

Bilateral acoustic neurofibromatosis Familial supernumerary nipples marfanoid habitus



Dominant mesomelic shortness of

stature with acral synostoses

Lumbar malsegmentation short

umbilical anomalies and soft palate

Centrotemporal epilepsy Familial symmetric lipomatosis

Familial syndesmodysplasic

stature Polymyositis



dwarfism Lumbosacral vertebrae Polyneuritis Mesomelia-synostoses syndrome

Calcifying Epithelial Odontogenic Familial syndrome of aniridia


and absence of the patella Faulk-Epstein-Jones syndrome Polyneuropathy familial recurrent Mesomelia synostoses

CEP Aniridia absent patella Lundberg syndrome familial recurrent Polyneuropathy Verloes-David syndrome

Familial tetralogy of fallot and

Neuropathy Hereditary with liability Umbilical cord ulcer with intestinal

Chronic eosinophilic pneumonia glaucoma Lung adenocarcinoma

to Pressure Palsies


Tetralogy of fallot and

Umbilical cord ulceration and


glaucoma Adenocarcinoma of lung TN

intestinal atresia

familial Thrombomodulin Lung herniation congenital defect of

Umbilical ulceration and intestinal

Ceramide trihexosidosis


sternem Tomaculous neuropathy

Hereditary with liability to Pressure


Cerebellar agenesis Familial thyroglossal duct cyst lung hypoplasia

Palsies Neuropathy

Hereditary Neuroapthy with liability

Umbilical cord ulceration

Cerebellar ataxia

Cerebellar ataxia infantile

Thyroglossal duct cysts Game-Friedman-Paradice syndrome to Pressure Palsy intestinal atresia

nonprogressive autosomal recessive Thyroglossal duct cysts familial Lupus erythematosus Polyneuropathy hand defect UMPS deficiency

Polyneuropathy mental retardation Uridine monophosphate synthetase

SCAR6 Thyroglossal tract cyst Systemic lupus erythematosus acromicria prema


infantile nonprogressive autosomal Hereditary thyroglossal duct

Polyneuropathy mental retardation

recessive Cerebellar ataxia

cysts SLE--20

acromicria premature menopause Oroticaciduria 1

autosomal recessive 6

Familial Treacher Collins

Polyomavirus allograft

Spinocerebellar ataxia

syndrome Lurie kletsky syndrome

nephropathy UMP synthtase deficiency

Orotate phosphoribosyltransferase

Norwegian infantile onset ataxia familial Trigeminal anesthesia Lutz Richner Landolt syndrome Polyomavirus Infections

and omp decarboxylase deficiency

Cerebellar ataxia infantile with

Cholestatic jaundice and renal

Uridine monophosphate synthase

progressive external ophthalmoplegia familial Corneal hypesthesia tubular insufficiency Polyposis adenomatous intestinal deficiency

Biliary malformation with renal

Orotidylic pyrophosphorylase and

Cerebellar ataxia type 1 Trigeminal anesthesia familial tubular insufficiency

cholestatic jaundice and multiple

congenital anomalies Renal tubular

Adenomatous polyposis coli orotidylic decarboxylase deficiency

ARCA1 Familial true hermaphroditism insufficiency

Renal tubular insufficiency

Hereditary polyposis coli uncombable hair

Cerebellar atrophy with progressive Familial XX true

cholestatic jaundice and multiple



congenital anomalies FAP uncomplicated Polysyndactyly


Familial adenomatous polyposis of

PCH with optic atrophy True hermaphroditism epidermodysplasia verruciformis the colon preaxial 4 Polydactyly

Pontocerebellar hypoplasia Hermaphroditism L-Xylulose reductase deficiency Familial adenomatous polyposis Polysyndactyly uncomplicated

Familial type IV

Undifferentiated myeloproliferative

PCH without dyskinesia


Carbohydrate inducible

Pentosuria Familial polyposis of the colon disease

Cerebellar degeneration


Familial hyperlipoproteinemia

Xylitol dehydrogenase deficiency Familial intestinal polyposis Chronic myeloproliferative disease

Dykes-Markes-Harper syndrome type 4 L-Xylulosuria Familial multiple polyposis Unguarded tricuspid orifice

familial variable Immune

Adenomatous polyposis of the


deficiency Lyme Borreliosis

colon Tricuspid valve agenesis

Cerebellar hypoplasia familial vasovagal Syncope Borreliosis adenomatous intestinal Polyposis Unicameral bone cyst

cerebellar hypoplasia and internal familial neurocardiogenic

Polyposis coli and multiple hard

malformations Porencephaly Syncope Borrelia Infections

and soft tissue tumors Solitary bone cyst

Porencephaly cerebellar hypoplasia

unilateral absence of (UAPA)

malformations Syncope familial vasovagal Lyme disease Gardner syndrome

Pulmonary artery

Porencephaly cerebellar hypoplasia

Unilateral absence of a pulmonary

and internal malformations Familial veinous malformations Lymph node neoplasm Gardner's syndrome

artery (UAPA)

Cerebellar hypoplasia tapetoretinal

osteomas sebaceous cysts uniparental disomy 1q12 q21

degeneration Familial venous malformations Lymphadenopathy-associated virus Intestinal polyposis

Chromosome 1

Cerebellar hypoplasia with endosteal

Intestinal polyposis osteomas

sclerosis Familial ventricular tachycardia Human T-lymphotropic virus type 3 sebaceous cysts Uniparental disomy 1q12 q21

Cerebellar parenchymal

Polyposis skin pigmentation

degeneration Familial visceral myopathy

Familial Waldenstrom's


alopecia fingernail changes Mosaic trisomy 1q12 q21

Cerebellar plus syndrome

macroglobulinaemia (type)


Lymphangioma Polysyndactyly uniparental disomy Chromosome 16

Cerebellar syndrome

macroglobulinaemia Lymphangiomas cardiac malformation

Polysyndactyly cardiac

Uniparental disomy of 16

pigmentary maculopathy WMG Lymphangiomatosis

malformation UPD(16)


Polysyndactyly microcephaly

Cerebellar vermis hypoplasia macroglobulinemia Thoracic lymphangiomatosis ptosis Uniparental disomy of 10

congenital ataxia Familial Wilms tumor 2 Massive Gorham Osteolysis Polysyndactyly orofacial anomalies Mosaic trisomy 10

familial with eosinophilia

Polysyndactyly overgrowth uniparental disomy of Chromosome


Reticuloendotheliosis Gorham syndrome



Cerebellooculorenal syndrome 1 Reticuloendotheliosis familial Disseminated lymphangiomatosis Polysyndactyly trigonocephaly Uniparental disomy of 15


More magazines by this user
Similar magazines