Rare Disease Library

Hypotrichosis simplex of the scalp

Hereditary hypotrichosis simplex of the scalp

Hypotrichosis with juvenile macular degeneration

HJMD · Hypotrichosis with juvenile macular dystrophy

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Hypotrichosis-intellectual disability, Lopes type

Lopes-Marques de Faria syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Idiopathic congenital hypothyroidism

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome · Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Metaphyseal dysplasia without hypotrichosis

Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome

Multilocular cystic renal neoplasm of low malignant potential

Multilocular cystic renal cell adenocarcinoma · Multilocular cystic renal cell carcinoma

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

Neurological muscular channelopathy due to a genetic potassium channel defect

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect

OBSOLETE: Channelopathy due to a transient receptor potential channel defect

OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect

OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect

OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features

OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Mediterranean spotted fever

OBSOLETE: Metabolic disease with macular cherry-red spot

OBSOLETE: Peripheral hypothyroidism

Permanent congenital hypothyroidism

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Primary congenital hypothyroidism

Primary congenital hypothyroidism without thyroid developmental anomaly

Primary orthostatic hypotension

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

ROHHAD · ROHHADNET