CENTRE DE GENETIQUE HUMAINE DE L'UNIKIN

Achromatopsia 3

Alkaptonuria

Alpha-Mannosidosis

Andermann/ Charlevoix syndrome 

AR Polycystic kidney disease

Bardet-Biedl syndrome 1

Biotidinase deficiency

Bloom syndrome

Canavan disease

Carnitine palmitoyltransferase II deficiency: AR; manifeste heteroz

CLN3-related neuronal Ceroid lipofuscinosis 

CLN5-related neuronal Ceroid lipofuscinosis 

CLN8-related neuronal Ceroid lipofuscinosis , nothern epilepsy

Congenital disorder of glycosylation type 1a (PMM2)

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Cystic Fibrosis (mucoviscidose, taaislijmeziekte)

Cystinosis 

Familial Dysautonomia

Familial mediterranean fever 

Fanconi Anemia, type C

Foetal akinesia

Fragile X syndrome: XL

G-6-PD

Galactosemia

Gaucher disease

GJB2-related nonsyndromic hearing loss/deafness

Glycogen storage disease type 1A

Hyperinsulinemic hypoglycemia ABBC8: AR/AD

Inclusion body myopathy 2 (Nonaka myopathy)

Joubert syndrome 2

Krabbe disease

LCHAD deficiency

Leukoencefalopathy with vanishing white matter

Lipoamide dehydrogenase deficiency

Maple Syrup Urine Disease (MSUD)

Meckel syndrome 2

Metachromatic Leukodystrophy (MLD)

Mitochondrial DNA depletion syndrome 4A, Alpers type

Mitochondrial DNA depletion syndrome 4B, MNGIE type

Mitochondrial recessive ataxia syndrome

Mitochondrial trifunctional protein deficiency

Mucolipidosis type IV

Mucopolysaccharidosis I, Hurler syndrome

Mucopolysaccharidosis III, Sanfilippo syndrome

Mucopolysaccharidosis IV, Morquio syndrome

Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome

Mucopolysaccharidosis VII, Sly syndrome

Muscle-eye-brain disease, Walker Warburg syndrome

nefrotic syndrome type 2

Nemaline myopathy

Nephrotic syndrome type 1, Fins type

Neuronal Ceroid Lipfuscinosis type 8, Progressive epilepsy and mental retardation

Neuronal Ceroid Lipofuscinosis type 1

Neuronal Ceroid Lipofuscinosis type 2

Neuronal Ceroid Lipofuscinosis type 3, Batten-Spielmeyer_Vogt disease

Neuronal Ceroid Lipofuscinosis type 5, Fins variant

Nieman-Pick disease

Nijmegen Breackage syndrome

Osteogenesis imperfecta type IIB/III

Pendred syndrome

Phenylketonuria

Pompe disease (congenital and juvenile)

Pontocerebellar Hypoplasia type 1

Pontocerebellar Hypoplasia type 2

Pontocerebellar Hypoplasia type 6

Rhizomelic ChondroDysplasia Punctata type 1

Sickle cell disease

Smith-Lemli-Opitz syndrome

Spinal Muscular Atrophy

Sulfate transporter-related osteochondrodysplasia (MED)

Tay-Sachs disease (GM2 Gangliosidosis)

Thalassemias, alpha- (HBA1)

Thalassemias, alpha- (HBA2)

Thalassemias, alpha- (HBB)

TPPA-related neuronal Ceroid lipofuscinosis, 

Usher syndrome Type 1F

Usher syndrome type 3

VLCAD deficiency

Wilson disease

Zellweger syndrome