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SEQ1108 Thyroid hormone resistance
SEQ1091 Male infertility with azoospermia or oligozoospermia
TRP1301 Premature ovarian failure
SEQ1095 Bardet-Biedl syndrome
SEQ9691 Wolfram Syndrome / Autosomal Dominant Deafness 6/14/38
SEQ9702 Type 1 autoimmune polyneuropsty, syndrome
SEQ9661 Werner syndrome
SEQ8960 Rubinstein-Taybi syndrome
SEQ8461 Pseudohypoparathyroidism
SEQ8441 Male pseudohermaphroditism due to deficiency in 5-alpha-reductase
SEQ8442 Male pseudohermaphroditism due to deficiency in 5-alpha-reductase
SEQ8251 Perlman's syndrome
SEQ8281 Peutz-Jeghers syndrome
SEQ8241 Pendred syndrome
SEQ8211 Parrault syndrome type 3
SEQ7751 Ohdo syndrome type SBBYS
SEQ7714 Obesity, Susceptibility
SEQ7715 Obesity, Susceptibility
SEQ7716 Obesity, Susceptibility
SEQ7561 Obesity due to deficiency of the leptin receptor gene
SEQ7563 Obesity due to leptin deficiency
SEQ7701 Morbid obesity
SEQ7711 Obesity, Susceptibility
SEQ7712 Obesity, Susceptibility
SEQ7713 Obesity, Susceptibility
SEQ7419 Multiple endocrine neoplasia 1 (MEN 1)
SEQ7420 Multiple endocrine neoplasia 2 (MEN 2)
SEQ7111 McCune-Albright syndrome
SEQ6932 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1
SEQ6933 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2
SEQ6934 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3
SEQ6935 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4
SEQ6936 Acquired partial lipodystrophy (Barraquer-Simons syndrome)
SEQ6931 Lipodystrophies
SEQ6841 Leopard syndrome
SEQ6842 sg Leopard syndrome
SEQ6811 Laron's syndrome
SEQ6611 Kallman syndrome type I
SEQ6612 Kallman syndrome type II
SEQ6613 Kallman syndrome type II
SEQ6137 HNF1 Beta / MODY type III
SEQ6077 Hypolipidemias
SEQ6055 Familial hypertriglyceridemia
SEQ6061 Benign familial hypobetalipoproteinemia
SEQ6041 Type 1 hyperlipoproteinemia
SEQ6042 Type 1 hyperlipoproteinemia
SEQ6048 Congenital adrenal hyperplasia
SEQ6030 Congenital hyperinsulism
SEQ6031 Combined familial hyperlipidemia
SEQ6037 Mixed hyperlipidemias
SEQ5991 Familial hypercholesterolemia
SEQ5992 Familial hypercholesterolemia
SEQ6001 Autosomal recessive familial hypercholesterolemia
SEQ5965 Hemochromatosis
SEQ5981 Hydroletal Syndrome
SEQ5671 GAPO syndrome
SEQ5051 Neutral lipid accumulation disease with myopathy without ichthyosis
SEQ4851 Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3)
SEQ4558 Ovarian response to FSH stimulation
SEQ4327 Septo-optic dysplasia
SEQ4329 Septo-optic dysplasia
SEQ4191 Familial thyroid dyshormonogenesis
SEQ4192 Familial thyroid dyshormonogenesis
SEQ4195 Global dyslipidemia
SEQ4161 Immune Dysfunction - Poliendocrinopathy - X-Linked Enteropathy
SEQ4172 Gonadal Dysgenesis (XY female) (Swyer's Syndrome)
SEQ4173 Gonadal Dysgenesis (XY female) (Swyer's Syndrome)
SEQ4112 Ovarian digenesis
SEQ4074 MODY5 diabetes
SEQ4111 Ovarian digenesis
SEQ4064 Transient neonatal diabetes mellitus
SEQ4065 Diabetes mellitus, permanent neonatal (PNDM)
SEQ4070 MODY diabetes
SEQ4071 MODY1 diabetes
SEQ4072 MODY2 diabetes
SEQ4073 MODY3 diabetes
SEQ4041 Autosomal Nephrogenic Diabetes Insipidus
SEQ4042 X-linked Nephrogenic Diabetes Insipidus
SEQ4051 Neurohypophyseal diabetes insipidus
SEQ4061 Permanent neonatal diabetes mellitus
SEQ4062 Transient neonatal diabetes mellitus
SEQ4063 Transient neonatal diabetes mellitus
SEQ4035 Epstein syndrome
SEQ3901 Isolated familial glucocorticoid deficiency
SEQ3892 Isolated familial glucocorticoid deficiency
SEQ3794 Congenital combined pituitary hormone deficiency
SEQ3791 Congenital combined pituitary hormone deficiency
SEQ3792 Congenital combined pituitary hormone deficiency
SEQ3793 Congenital combined pituitary hormone deficiency
SEQ3661 Aromatase deficiency
SEQ3591 Isolated type IB growth hormone deficiency
SEQ3471 Corticosterone Methyloxidase Deficiency Type I
SEQ3363 Congenital Glycosylation Defect type 1C
SEQ3361 Congenital Glycosylation Defect type 1A
SEQ3362 Congenital Glycosylation Defect type 1B
SEQ2941 Cohen syndrome, c.3348_3349delCT mutation VPS13B gene
SEQ2942 Cohen syndrome
SEQ2841 CHILD syndrome
SEQ2634 Bilateral striatum-pale-dentate calcinosis
SEQ2641 Calcinosis, tumor
SEQ2642 Calcinosis, tumor
SEQ2651 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
SEQ2361 Bloom syndrome
SEQ2351 Reverse blepharophimosis-ptosis-epicanthus
SEQ2281 NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome
SEQ2228 Bardet-Biedl syndrome type 8
SEQ2230 Bardet-Biedl syndrome type 10
SEQ2231 Bardet-Biedl syndrome type 11
SEQ2232 Bardet-Biedl syndrome type 12
SEQ2222 Bardet-Biedl syndrome type 1
SEQ2223 Bardet-Biedl syndrome type 2
SEQ2224 Bardet-Biedl syndrome type 3
SEQ2225 Bardet-Biedl syndrome type 4
SEQ2226 Bardet-Biedl syndrome type 5
SEQ2227 Bardet-Biedl syndrome type 7
SEQ2041 Axenfeld-Riegeer syndrome type 1
SEQ2221 Bardet-Biedl syndrome type 1, p.Met390Arg gene BBS1 mutation
SEQ1661 Thiamine-sensitive megaloblastic anemia syndrome
SEQ1515 Alport syndrome (X-linked)
SEQ1471 Alpha-Thalassemia
SEQ1371 Adrenoleukodystrophy
SEQ1361 Primary pigmented nodular adrenocortical disease
SEQ1362 Primary pigmented nodular adrenocortical disease
SEQ1211 Abetalipoproteinemia
SEQ1086 Ataxia - Oculomotor apraxia type 4 / Epileptic encephalopathy of early childhood
SEQ1071 Familial Hypercholesterolemia
SEQ1060 Familial Pheochromocytoma
PRE6002 Ambiguous genitalia
MLP3501 Von Hippel-Lindau syndrome
MLP3051 kidney cysts and diabetes
MLP3101 Resistance to insulin-like growth factor I
MLP2941 Pendred syndrome
MLP2961 Peutz-Jeghers syndrome
MLP2725 Multiple endocrine neoplasia type IV
MLP2721 Multiple endocrine neoplasia
MLP2571 Syndromic microphthalmia type 3
MLP2240 Androgen insensitivity syndrome
MLP2311 Kallmann 1 syndrome
MLP2121 Congenital adrenal hyperplasia
MLP2111 Hyperlipoproteinemia type I
MLP1655 Diabetes type MODY.
MLP1645 1p36 deletion syndrome.
MLP1651 Mitochondrial DNA depletion Syndrome
MLP1454 X-linked Charcot-Marie-Tooth disease
MLP1211 Beckwith-Wiedemann syndrome / Russell-Silver syndrome
MLP1401 Gonadal dysgenesis
MLP1103 MODY diabetes
EXN1177 Familial thyroid dysmormogenesis
EXN1167 Lymphatic Malformations and Related Diseases
EXN1164 Hyperparathyroidism
EXN1139 Monogenic obesity
EXN1130 Hypogonadotropic hypogonadism
EXN1124 Septo-optic dysplasia
EXN1122 Premature ovarian failure
EXN1113 Hypercalcaemia
EXN1118 Lipodystrophies
EXN1106 Short stature
EXN1089 Familial hypercholesterolemia
EXN1090 Bardet-Biedl syndrome
EXN1081 Diabetes
EXN1069 Combined pituitary hormones deficiency and hypothyroidism
SEQ references correspond to studies performed using NIMSeq®
EXN references correspond to studies performed using ExoNIM®


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