Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

disorder anterior segment anomalies of the

eye and early lethality

Aganglionosis total colonic Crow-Fukase syndrome Hereditary primary Fanconi disease Al-gazali syndrome

multiple skeletal anomalies and

Seckel syndrome

Hereditary progressive dystonia with developmental delay

NTIA Polyneuropathy organomegaly marked diurnal fluctuation


Megalocornea multiple skeletal

anomalies and developmental

Seckel-type dwarfism 2

Near-total intestinal aganglionosis CRS Segawa syndrome

delay SCKL2

total intestinal Aganglionosis craniosynostosis hereditary Prosopagnosia Frank Ter Haar syndrome

Autosomal recessive Melnick-

Seckel syndrome 2

Rare form of Hirschsprung's disease Lopez-Hernandez syndrome congenital Prosopagnosia

Needles syndrome (formerly) Bird-headed dwarfism 2

total colonic Aganglionosis brain defect developmental Prosopagnosia Ter Haar syndrome Microcephalic primordial dwarfism 2

Crumpled helices and small

Multiple system tauopathy with

Agenesis of sacrum

mouth Prosopagnosia congenital

presenile dementia

Dementia frontotemporal with

Secondary pulmonary hypertension

Hypoplasia of sacrum Cryofibrinogenemia Face blindness


Frontotemporal lobe dementia

Seemanova Lesny syndrome

Sacral agenesis Cryoglobulinaemia Prosopagnosia developmental (FLDEM) Seghers syndrome

Hereditary renal disease and Frontotemporal dementia with

Lumbosacral agenesis Cryoglobulinaemia mixed preauricular pits

parkinsonism Segmental glomerulosclerosis

agenesis of the corpus callosum Essential cryoglobulinaemia Hereditary renal hypouricemia Frontotemporal dementia focal Glomerulosclerosis

Hereditary resistance to anti-vitamin frontotemporal with parkinsonism

Graham-Cox syndrome

agenesis of the corpus callosum

mental retardation and growth

Primary cryoglobulinaemia K

Dementia Focal segmental glomerulosclerosis

deficiency Familial white matter

Hereditary sensory and autonomic


Familial white matter hypoplasia

agenesis of the corpus callosum

mental retardation and growth

Cryoglobulinemic vascularitis neuropathy multiple type 1 Exostoses FSG


corpus callosum agenesia and

CryoII HSAN multiple type 2 Exostoses FSGS1

mental retardation White matter

Hereditary sensory and autonomic

hypoplasia Cryoglobulinemia

neuropathy type 5 multiple type 3 Exostoses FSGS

Multiple vertebral anomalies Focal segmental glomerulosclerosis

Curatolo Cilio Pessagno syndrome

Agenesis of the corpus callosum with

Cryptococcosis HSAN 5

unusual facies


mental retardation and osseous Cryptogenic organized Hereditary sensory neuropathy type multiple with brachydactyly




Synostoses Glomerulosclerosis focal

agenesis of with abnormal genitalia Cryptogenic organizing autosomal dominant Neuropathy Deafness-symphalangism

Corpus callosum

acquired micrencephaly and


hereditary sensory radicular syndrome of Herrmann FGS

agenesis of the corpus callosum New

Neuropathy hereditary sensory and

X-linked syndrome with seizures Cryptomicrotia

autonomic type 1 Multiple synostoses syndrome 1 Focal sclerosis with hyalinosis

Tonoki-Ohura-Niikawa Neuropathy hereditary sensory

ACC with abnormal genitalia syndrome

radicular autosomal dominant WL syndrome


Segmental vertebral anomalies

Proud Levine Carpenter syndrome excess fingertip arch HSAN 1

syndrome Segmentation syndrome 1

Corpus callosum agenesis of with Cryptomicrotia brachydactyly Hereditary sensory neuropathy type Symphalangism-brachydactyly Klippel-Feil syndrome with laryngeal

abnormal genitalia

syndrome excess fingertip arch 2



Tonoki ohura niikawa

Hereditary spherocytic hemolytic Synostoses multiple with

Seizures benign familial neonatal

Proud syndrome




recessive form

New X-linked syndrome with seizures

multiple with limb abnormalities

acquired micrencephaly and Cryptomicrotia brachydactyly

and hypopituitarism Midline Seizures mental retardation hair

agenesis of the corpus callosum syndrome Acholuric jaundice



agenesis of with chorioretinal

DebrieÆs familial haemolytic

abnormality Corpus callosum Cryptophthalmia

disease Dincsoy syndrome

Midline malformations multiple with

selective deficiency of Iga

Corpus callosum agenesis of with Cryptophthalmos with other Minkowski-Chauffard haemolytic limb abnormalities and

selective deficiency of Gamma-a-

chorioretinal abnormality





Gamma-a-globulin selective

Aicardi syndrome Fraser syndrome


Minkowski-Chauffard disease Dincsoy Salih Patel syndrome deficiency of

aggressive behavior

syndrome Congenital hemolytic jaundice Mulvihill-Smith syndrome Immunoglobulin a deficiency 1

Cryptorchidism arachnodactyly Minkowski-Chauffard-GSnsslen

Aggressive fibromatosis

mental retardation

syndrome pigmented nevi Iga selective deficiency of

Aggressive NK-cell leukaemia Cryptosporidiosis Chronic acholuric jaundice Mumps Igad1

Immunoglobulin a selective

Aggressive systemic mastocytosis Cryptosporidium parvum Hereditary spherocytosis Munchausen syndrome by proxy deficiency of

severe atypical due to suspected

selective deficiency of

Aglossia and Situs Inversus Crystal deposit disease ankyrin defect Spherocytosis MbPS

Immunoglobulin a

Spherocytosis severe atypical due to

selective deficiency of taci-related

AGM2 CS type C

suspected ankyrin defect Munchausen by proxy syndrome Immunoglobulin a

Agnathia holoprosencephaly situs

Iga selective deficiency of taci-

inversus type C CS Hereditary spinal ataxia MSBP



selective deficiency of taci-related

Agnathia-holoprosencephaly Cockayne syndrome type C Hereditary spinal sclerosis



Dysgnathia complex Cockayne syndrome type 3 Friedreich ataxia Muscle eye brain disease Igad2

MEB (Muscle-Eye-Brain)

Immunoglobulin a selective

Holoprosencephaly-agnathia Type C Cockayne syndrome Friedreich Spinocerebellar ataxia syndrome

deficiency of taci-related

Agonadism dextrocardia

Muscle form of carnitine

diaphragmatic hernia CSID Spinocerebellar ataxia Friedreich palmitoyltransferase deficiency Immunoglobulin a deficiency 2

Agonadism with multiple internal congenital Sucrose-isomaltase

Carnitine palmitoyltransferase


malabsorption Hereditary thrombocythemia deficiency type 2 Selenium poisoning

Kennerknecht Sorgo Oberhoffer congenital Sucrase-isomaltase

Carnitine palmitoyl transferase 2


deficiency Hereditary type 1 neuropathy deficiency

Muscle phosphoglycerate mutase

self-healing squamous 1 Epithelioma

PAGOD syndrome Disaccharide intolerance 1 Hereditary type 2 neuropathy deficiency

muscle type Pyruvate kinase

Ferguson-Smith Type epithelioma

Agranulocytic Angina 1 Disaccharide intolerance Hereditary Tyrosinemias

deficiency Keratoacanthoma familial

Acquired agranulocytosis Sucrose intolerance congenital Hypertyrosinemia Muscle-liver-brain-eye nanism Epithelioma self-healing squamous 1

Pericardial constriction with growth Multiple self-healing squamous

Neutropenia Malignant SI deficiency





Primary Granulocytopenia

malabsorption congenital Hereditary ulnar drift Mulibrey Nanism syndrome Selig Benacerraf Greene syndrome

megalocystis and sirenomelia Renal

Malignant Neutropenia CSMA Sallis Beighton syndrome Perheentupa syndrome


Chronic spinal muscular

Muscular atrophy ataxia retinitis Renal dysplasia megalocystis and

Granulocytopenia Primary

atrophy Digitotalar dysmorphism

pigmentosa diabetes mellitus sirenomelia


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