Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)
congenital muscular dystrophy merosin-positive
Congenital Muscular Dystrophy plus Mental Retardation
congenital muscular dystrophy with cataracts and intellectual disability
Congenital Muscular Dystrophy with Cerebellar Atrophy
Congenital Muscular Dystrophy with Rapid Progression
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
Congenital Muscular Dystrophy, Davignon-Chauveau Type
congenital myasthenic syndrome 18
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 7
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 8
congenital nystagmus 2
congenital nystagmus 3
congenital nystagmus 4
congenital nystagmus 7
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital vertical talus
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
cortisone reductase deficiency 2
Costello syndrome
Cowden syndrome +
craniofacial-deafness-hand syndrome
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy +
Culler-Jones syndrome
Currarino syndrome
D-2-hydroxyglutaric aciduria 2
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
delta beta-thalassemia +
Denys-Drash syndrome
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 87
dextro-looped transposition of the great arteries 1
dextro-looped transposition of the great arteries 3
Diamond Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
diaphyseal medullary stenosis with malignant fibrous histiocytoma