ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES
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(OMIM:208081)
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Acute interstitial pneumonia
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(Orphanet:79126)
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Adenylosuccinate lyase deficiency
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(Orphanet:46)
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Alström syndrome
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(Orphanet:64)
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Autosomal dominant Charcot-Marie-Tooth disease type 2C
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(Orphanet:99937)
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Carnitine palmitoyl transferase II deficiency, neonatal form
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(Orphanet:228308)
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Combined oxidative phosphorylation defect type 11
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(Orphanet:324535)
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Combined oxidative phosphorylation defect type 15
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(Orphanet:319524)
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Combined pulmonary fibrosis-emphysema syndrome
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(Orphanet:300564)
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Congenital muscular dystrophy type 1B
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(Orphanet:98893)
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Congenital neuronal ceroid lipofuscinosis
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(Orphanet:168486)
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Costello syndrome
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(Orphanet:3071)
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Distal myopathy with early respiratory muscle involvement
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(Orphanet:34521)
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Duchenne muscular dystrophy
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(Orphanet:98896)
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Fatal infantile hypertonic myofibrillar myopathy
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(Orphanet:280553)
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Fatal infantile lactic acidosis with methylmalonic aciduria
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(Orphanet:17)
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Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
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(Orphanet:168566)
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Fatal multiple mitochondrial dysfunction syndrome
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(Orphanet:289573)
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Fibrodysplasia ossificans progressiva
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(Orphanet:337)
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Fibulo-ulnar hypoplasia - renal anomalies
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(Orphanet:2256)
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Glycogen storage disease due to glycogen branching enzyme deficiency
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(Orphanet:367)
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Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
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(Orphanet:137681)
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Hermansky-Pudlak syndrome with pulmonary fibrosis
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(Orphanet:231500)
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Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
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(Orphanet:363694)
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Immunodeficiency with natural-killer cell deficiency
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(Orphanet:75391)
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Isolated NADH-CoQ reductase deficiency
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(Orphanet:2609)
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KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
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(OMIM:611722)
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Lethal congenital contracture syndrome type 2
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(Orphanet:137776)
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Lymphoid interstitial pneumonia
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(Orphanet:79128)
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MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
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(OMIM:615838)
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MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
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(OMIM:600333)
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MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
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(OMIM:614299)
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MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
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(OMIM:614399)
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Metatropic dysplasia
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(Orphanet:2635)
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Mitochondrial trifunctional protein deficiency
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(Orphanet:746)
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Mucopolysaccharidosis type 2
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(Orphanet:580)
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Multifocal atrial tachycardia
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(Orphanet:3282)
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Multiple acyl-CoA dehydrogenase deficiency
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(Orphanet:26791)
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Myhre syndrome
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(Orphanet:2588)
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NEMALINE MYOPATHY 8
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(OMIM:615348)
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Neonatal acute respiratory distress with surfactant metabolism deficiency
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(Orphanet:217563)
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Nephronophthisis 2
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(OMIM:602088)
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Otopalatodigital syndrome
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(Orphanet:669)
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PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
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(OMIM:616081)
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Perinatal lethal hypophosphatasia
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(Orphanet:247623)
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Proximal spinal muscular atrophy
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(Orphanet:70)
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Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
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(Orphanet:88618)
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RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA
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(OMIM:267480)
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SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
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(OMIM:610921)
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Spinal muscular atrophy with respiratory distress
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(Orphanet:98920)
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Spondyloepiphyseal dysplasia, Reardon type
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(Orphanet:163662)
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Spondylometaphyseal dysplasia, Golden type
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(Orphanet:168544)
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Thoracic dysplasia-hydrocephalus syndrome
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(Orphanet:1861)
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Ulbright-Hodes syndrome
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(Orphanet:3404)
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VACTERL with hydrocephalus
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(Orphanet:3412)
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Wolfram syndrome 1
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(OMIM:222300)
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Wolfram syndrome 2
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(OMIM:604928)
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