A – Z: Clinical Genetics


AARSKOG-SCOTT SYNDROME (FACIOGENITAL DYSPLASIA)

ACRODYSOSTOSIS TYPE 1 (ACRDYS1) AND ACRODYSOSTOSIS TYPE 2 (ACRDYS2)

ACROGIGANTISM, X-LINKED

ALAGILLE SYNDROME

ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS (ACD/MPV)

AORTIC VALVE DISEASE

ATYPICAL PROGEROID SYNDROME

BOSLEY-SALIH-ALORAINY SYNDROME (BSAS)

BRAIN SMALL-VESSEL DISEASE WITH HAEMORRHAGE

CARNEY COMPLEX

CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)

CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1

CHONDRODYSPLASIA PUNCTATA

COLE DISEASE

COMBINED PITUITARY HORMONE DEFICIENCY

CONE ROD DYSTROPHY

CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES (CFEOM)

CONGENITAL GENERALISED LIPODYSTROPHY (CGL)

CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECTS (CHILD) SYNDROME

CONGENITAL HYPOTHYROIDISM

CYSTIC FIBROSIS

DILATED CARDIOMYOPATHY TYPE 1A

DUANE RADIAL RAY SYNDROME (OKIHIRO SYNDROME)

DUANE RETRACTION SYNDROME (DRS)

EMERY DREIFUSS MUSCULAR DYSTROPHY (EDMD)

ENDOCRINE NEOPLASIA SYNDROMES

EXOME SEQUENCING

FAMILIAL GLUCOCORTICOID DEFICIENCY

FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA

FAMILIAL ISOLATED HYPERPARATHYROIDISM

FAMILIAL ISOLATED HYPOPARATHYROIDISM

FANCONI- BICKEL SYNDROME

FEINGOLD SYNDROME

GASTROINTESTINAL ATRESIA

GENERALISED ARTERIAL CALCIFICATION OF INFANCY

GLUCOCORTICOID DEFICIENCY

GLUCOSE GALACTOSE MALABSORPTION

HAEMOCHROMATOSIS

HAJDU-CHENEY SYNDROME

HEPATIC ADENOMAS

HEREDITARY ANGIOPATHY WITH NEPHROPATHY, ANEURYSMS AND MUSCLE CRAMPS (HANAC) SYNDROME

HERITABLE THROMBOPHILIA

HIRSCHSPRUNG DISEASE

HOLOPROSENCEPHALY

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS (HGPPS)

HUTCHINSON-GILFORD PROGERIA SYNDROME

HYPERINSULINISM

HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS

HYPERTHYROIDISM

HYPOPHOSPHATEMIC RICKETS

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

IPEX SYNDROME

ISOLATED PITUITARY ADENOMA

LATERAL MENINGOCELE SYNDROME (LEHMAN SYNDROME)

LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 1B

MANDIBULAR HYPOPLASIA, DEAFNESS AND PROGEROID (MDP) SYNDROME

MANDIBULOACRAL DYSPLASIA

MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY

MATERNALLY INHERITED DIABETES AND DEAFNESS

MATURITY-ONSET DIABETES OF THE YOUNG (MODY)

MEDULLARY THYROID CARCINOMA

MOEBIUS SYNDROME

MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1)

MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A (MEN2A) & MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B (MEN2B)

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 (MEN4)

MULTIPLE EXOSTOSES

NEONATAL DIABETES MELLITUS & CEREBELLAR AGENESIS

NEONATAL DIABETES MELLITUS & CONGENITAL HYPOTHYROIDISM (NDH SYNDROME)

NESTOR-GUILLERMO PROGERIA SYNDROME

PARTIAL LIPODYSTROPHY

PHAEOCHROMOCYTOMA & PARAGANGLIOMA

PONTOCEREBELLAR HYPOPLASIA

PORENCEPHALY

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

PSEUDOHYPOALDOSTERONISM TYPE 2

PSEUDOXANTHOMA ELASTICUM

PURE MUCOSAL NEUROMA SYNDROME

PYRIDOXINE DEPENDENT EPILEPSY

RENAL CYSTS AND DIABETES (RCAD)

RESTRICTIVE DERMOPATHY

SPONDYLOCOSTAL DYSOSTOSIS

THIAMINE RESPONSIVE MEGALOBLASTIC ANAEMIA

VISCERAL HETEROTAXY

VON HIPPEL-LINDAU SYNDROME (VHL)

WERNER SYNDROME

WOLCOTT RALLISON SYNDROME


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