|
gptkb:X-linked_hypophosphatemia
|
sporadic cases possible
|
|
gptkb:Werner_syndrome
|
autosomal recessive
|
|
gptkb:Alport_syndrome
|
X-linked dominant
|
|
gptkb:progressive_myoclonic_epilepsy_type_1
|
autosomal recessive
|
|
gptkb:alternating_hemiplegia_of_childhood
|
sporadic
|
|
gptkb:centronuclear_myopathy
|
X-linked recessive
|
|
gptkb:juvenile_Parkinson's_disease
|
autosomal recessive
|
|
gptkb:Van_der_Woude_syndrome
|
autosomal dominant
|
|
gptkb:Rendu-Osler-Weber_disease
|
autosomal dominant
|
|
gptkb:Patrick_Crawley,_Earl_of_Grantham
|
heir to Downton Abbey
|
|
gptkb:Al-Awadi/Raas-Rothschild_syndrome
|
autosomal recessive
|
|
gptkb:Osteogenesis_imperfecta_type_II
|
autosomal dominant
|
|
gptkb:Glu6Val_in_beta-globin
|
autosomal recessive
|
|
gptkb:SMN1
|
autosomal recessive
|
|
gptkb:tuberous_sclerosis_1
|
autosomal dominant
|
|
gptkb:Hypophosphatasia
|
autosomal dominant
|
|
gptkb:ectodermal_dysplasia,_acromelic
|
autosomal dominant
|
|
gptkb:PAPA_syndrome
|
autosomal dominant
|
|
gptkb:familial_hemiplegic_migraine_type_2
|
autosomal dominant
|
|
gptkb:multiminicore_disease
|
autosomal recessive
|