Review the Complete Phenotype Spectrum

Select a disorder to view its full phenotype profile:

Disorders

biotinidase_deficiency
holocarboxylase_synthetase_deficiency
fructose_1_6_bisphosphatase_deficiency
deafness_congenital_and_familial_myoclonic_epilepsy
progressive_myoclonus_epilepsy
x_linked_intellectual_disability_retinitis_pigmentosa_syndrome
severe_canavan_disease
butyrylcholinesterase
myoclonic_epilepsy_hartung_type
retinal_ciliopathy_due_to_mutation_in_usher_gene
cleft_larynx_posteriorstridor_congenital_included