Goniodysgenesis and early-onset glaucoma
Cataracts, FYCO1-related
Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both
Primary open angle glaucoma (POAG), ADAMTS17-related
Progressive retinal atrophy, TTC8-related
Early retinal degeneration (erd)
Progressive retinal atrophy, SLC4A3-related
Congenital eye malformation
Progressive Retinal Atrophy, SAG-related
Cone-rod dystrophy 4 (crd4)
Progressive retinal atrophy, X-linked, type 2
Progressive retinal atrophy, X-linked, type 1
Leber congenital amaurosis
Rod-cone dysplasia 2 (rcd2)
Microphthalmia with coloboma
Progressive rod-cone degeneration
Progressive retinal atrophy, PPT1-related
Rod-cone dysplasia 1 (rcd1), PDE6B-related
Rod-cone dysplasia 1a (rcd1a), PDB Beta subunit-related
Rod-cone dysplasia 3 (rcd3)
Cone-rod dystrophy, NPHP4-related
Congenital myasthenic syndrome, COLQ-related
Congenital muscular dystrophy, LAMA2-related
Muscular dystrophy-dystroglycanopathy
Nemaline myopathy
Osteochondrodysplasia
Vitamin D-deficiency rickets, type II
Ehlers-Danlos syndrome, classic-like type
Hyperekplexia
Craniomandibular osteopathy
Inflammatory myopathy
Limb-girdle muscular dystrophy, type 2F
Limb-girdle muscular dystrophy, type R3
Van den Ende-Gupta syndrome
Malignant hyperthermia
Multiple system degeneration
Leigh-like subacute necrotizing encephalopathy (SNE)
Neurological defects, MYO5A-related
Neuroaxonal dystrophy, VPS11-related
Dandy-Walker-like malformation (cerebellar hypoplasia)
Sensory ataxic neuropathy
Juvenile-onset neuroaxonal dystrophy, TECPR2-related
Spinocerebellar ataxia, SPTBN2-related
Paroxysmal dyskinesia, SOD1-related
Degenerative myelopathy
Cerebellar cortical degeneration
Spinocerebellar ataxia, SLC12A6-related
CNS atrophy and cerebellar ataxia
Spinocerebellar ataxia, SCN8A-related
Polyneuropathy, SBF2-related
Laryngeal paralysis, RAPGEF6-related
Polyneuropathy, RAB3GAP1-related
Cerebellar ataxia, RAB24-related
Pelizaeus-Merzbacker disease (shaking pup disease)
Neuroaxonal dystrophy, PLA2G6-related
Mitochondrial neurodegenerative disease with epileptic encephalopathy
Paroxysmal dyskinesia, PIGN-related
Spinal dysraphism
Congenital cornification disorder
Exfoliative cutaneous lupus erythematosus (ECLE)
Ichthyosis, TGM1-related
Nasal parakeratosis
Ichthyosis, SLC27A4-related
Hypotrichosis
Ichthyosis, PNPLA1-related
Epidermolysis bullosa simplex (EBS)
Ectodermal dysplasia - skin fragility syndrome (ED-SFS)
Inflammatory linear verrucous epidermal nevi (ILVEN)
Ichthyosis, NIPAL4-related