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| 726 | Alpers-Huttenlocher syndrome
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| 139450 | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
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| 139455 | Autosomal recessive bestrophinopathy
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| 1574 | Retinal degeneration-nanophthalmos-glaucoma syndrome
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| 139466 | SERKAL syndrome
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| 1596 | Distal monosomy 15q
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| 139471 | Microphthalmia with brain and digit anomalies
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| 139474 | 17q11.2 microduplication syndrome
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| 139477 | Al-Gazali-Dattani syndrome
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| 1617 | 2q24 microdeletion syndrome
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| 1606 | 1p36 deletion syndrome
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| 139480 | Autosomal recessive spastic paraplegia type 39
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| 1647 | Oculocerebrocutaneous syndrome
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| 139485 | Autosomal recessive ataxia due to ubiquinone deficiency
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| 139491 | Hemochromatosis type 4
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| 1653 | Dentin dysplasia
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| 139507 | African iron overload
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| 139515 | Charcot-Marie-Tooth disease type 4J
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| 139512 | Neuropathy with hearing impairment
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| 1657 | Dermatoosteolysis, Kirghizian type
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| 139525 | Distal hereditary motor neuropathy type 2
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| 1658 | Absence of fingerprints-congenital milia syndrome
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| 139518 | Distal hereditary motor neuropathy type 1
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| 1659 | Dermatoleukodystrophy
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| 139547 | Distal spinal muscular atrophy type 3
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| 139536 | Distal hereditary motor neuropathy type 5
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| 1660 | Dermoodontodysplasia
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| 139557 | X-linked distal spinal muscular atrophy type 3
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| 1661 | X-linked corneal dermoid
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| 139552 | Distal hereditary motor neuropathy, Jerash type
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| 1662 | Restrictive dermopathy
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| 139573 | Hereditary sensory and autonomic neuropathy with deafness and global delay
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| 1665 | Sporadic fetal brain disruption sequence
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| 139564 | Hereditary sensory and autonomic neuropathy type 1B
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| 139583 | X-linked hereditary sensory and autonomic neuropathy with deafness
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| 1667 | Wolcott-Rallison syndrome
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| 139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia
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| 139589 | Distal hereditary motor neuropathy type 7
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| 1671 | Diastematomyelia
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| 1674 | Digitorenocerebral syndrome
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| 140917 | Stapes ankylosis with broad thumbs and toes
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| 1548 | Cryptorchidism-arachnodactyly-intellectual disability syndrome
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| 1547 | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
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| 140922 | Autosomal recessive limb-girdle muscular dystrophy type 2J
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| 1545 | Crisponi syndrome
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| 140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
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| 1540 | Jackson-Weiss syndrome
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| 1535 | Craniosynostosis-dysmorphism-brachydactyly syndrome
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| 140908 | Brachydactyly type B2
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| 1533 | Craniosynostosis-fibular aplasia syndrome
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| 140874 | Joubert syndrome and related disorders
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| 140896 | Acute respiratory coronavirus infection
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| 1532 | Gómez-López-Hernández syndrome
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| 140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome
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| 140957 | Autosomal dominant macrothrombocytopenia
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| 140944 | CLOVES syndrome
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| 140949 | Low-flow priapism
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| 1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
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| 140936 | Lelis syndrome
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| 140941 | Short stature due to primary acid-labile subunit deficiency
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| 1553 | Curry-Jones syndrome
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| 140927 | Benign familial neonatal-infantile seizures
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| 140933 | Linear atrophoderma of Moulin
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| 140989 | Primary angiitis of the central nervous system
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| 1566 | Dandy-Walker malformation-postaxial polydactyly syndrome
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| 140976 | RHYNS syndrome
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| 1563 | Dahlberg-Borer-Newcomer syndrome
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| 140969 | Saldino-Mainzer syndrome
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| 140966 | Palmoplantar keratoderma, Nagashima type
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| 1562 | Dacryocystitis-osteopoikilosis syndrome
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| 140963 | Bilateral microtia-deafness-cleft palate syndrome
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| 1557 | Cutis verticis gyrata-intellectual disability syndrome
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| 141046 | Cervical dermoid cyst
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| 382 | Guanidinoacetate methyltransferase deficiency
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| 742 | Prolidase deficiency
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| 141037 | Fourth branchial cleft anomaly
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| 141030 | Third branchial cleft anomaly
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| 141022 | Second branchial cleft anomaly
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| 1979 | Lipodystrophy due to peptidic growth factors deficiency
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| 141013 | First branchial cleft anomaly
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| 1571 | Knobloch syndrome
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| 141007 | Orofaciodigital syndrome type 9
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| 1551 | Familial benign copper deficiency
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| 1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
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| 141000 | Orofaciodigital syndrome type 11
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| 140997 | Orofaciodigital syndrome
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| 1569 | De Sanctis-Cacchione syndrome
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| 140432 | Hereditary iron overload with anemia
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| 1497 | X-linked complicated corpus callosum dysgenesis
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| 140436 | Primary intraosseous venous malformation
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| 140453 | Autosomal dominant hereditary demyelinating motor and sensory neuropathy
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| 1493 | Vici syndrome
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| 140286 | Secondary hypoparathyroidism due to impaired parathormon secretion
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| 1495 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
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| 140428 | Hereditary iron overload with neurologic manifestation
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| 140468 | Autosomal recessive distal hereditary motor neuropathy
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| 1509 | Coxopodopatellar syndrome
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| 140471 | Hereditary sensory and autonomic neuropathy
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| 1512 | Crane-Heise syndrome
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| 140474 | Autosomal dominant hereditary sensory and autonomic neuropathy
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