Wikipedia:WikiProject Missing encyclopedic articles/Missing diseases/7

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  1. Kalam Hafeez syndrome
  2. Kaler Garrity Stern syndrome
  3. Kallikrein hypertension
  4. Kalyanraman syndrome
  5. Kantaputra Gorlin syndrome
  6. Kaplan Plauchu Fitch syndrome
  7. Kaplowitz Bodurtha syndrome
  8. Kaposiform hemangio-endothelioma
  9. Kapur Toriello syndrome
  10. Karandikar Maria Kamble syndrome
  11. Kashani Strom Utley syndrome
  12. Kasznica Carlson Coppedge syndrome
  13. Katsantoni Papadakou Lagoyanni syndrome
  14. Katz syndrome
  15. Kaufman oculocerebrofacial syndrome
  16. KBG syndrome
  17. Kennerknecht Sorgo Oberhoffer syndrome
  18. Kennerknecht Vogel syndrome
  19. Kenny Caffey syndrome
  20. Kenny-Caffey syndrome, Type 1
  21. Keratitis, hereditary
  22. Keratoderma hypotrichosis leukonychia
  23. Keratoderma palmoplantar deafness
  24. Keratoderma palmoplantar spastic paralysis
  25. Keratoderma palmoplantaris transgrediens
  26. Keratolytic winter erythema
  27. Keratosis focal palmoplantar gingival
  28. Keratosis follicularis dwarfism cerebral atrophy
  29. Keratosis follicularis spinulosa decalvans
  30. Keratosis palmoplantaris adenocarcinoma of the colon
  31. Keratosis palmoplantaris esophageal colon cancer
  32. Keratosis palmoplantaris papulosa
  33. Keratosis palmoplantaris with corneal dystrophy
  34. Keratosis palmoplantar-periodontopathy
  35. Kerion celsi
  36. Keutel syndrome
  37. Ki-1cell lymphoma
  38. KID syndrome
  39. Kifafa seizure disorder
  40. Kimura disease
  41. King-Denborough syndrome
  42. Kleeblattschaedel syndrome
  43. Kleine Levin Syndrome
  44. Kleiner Holmes syndrome
  45. Klippel Feil deformity conductive deafness absent vagina
  46. Klippel Feil syndrome dominant type
  47. Klippel Feil syndrome recessive type
  48. Kniest like dysplasia lethal
  49. Knobloch layer syndrome
  50. Knuckle pads, leuconychia and sensorineural deafness
  51. Kobberling-Dunnigan syndrome
  52. Kohlschutter Tonz syndrome
  53. Konigsmark Knox Hussels syndrome
  54. Koone Rizzo Elias syndrome
  55. Korula Wilson Salomonson syndrome
  56. Kosztolanyi syndrome
  57. Kotzot-Richter syndrome
  58. Kousseff Nichols syndrome
  59. Kousseff syndrome
  60. Kowarski syndrome
  61. Kozlowski Brown Hardwick syndrome
  62. Kozlowski Celermajer syndrome
  63. Kozlowski Massen syndrome
  64. Kozlowski Ouvrier syndrome
  65. Kozlowski Rafinski Klicharska syndrome
  66. Kozlowski Tsuruta Taki syndrome
  67. Kozlowski Warren Fisher syndrome
  68. Kozlowski-Krajewska syndrome
  69. Krabbe leukodystrophy
  70. Krasnow Qazi syndrome
  71. Krause-Kivlin syndrome
  72. Krauss Herman Holmes syndrome
  73. Krieble Bixler syndrome
  74. Kumar Levick syndrome
  75. Kurczynski Casperson syndrome
  76. Kuskokwim disease
  77. Kuster Majewski Hammerstein syndrome
  78. Kuster syndrome
  79. Kuzniecky syndrome
  80. Kyasanur Forrest disease
  81. Kyphosis brachyphalangy optic atrophy
  82. Labrador lung
  83. Lachiewicz Sibley syndrome
  84. Lacrimo-auriculo-dento-digital syndrome
  85. Lactate dehydrogenase deficiency type A
  86. Lactate dehydrogenase deficiency type B
  87. Lactate dehydrogenase deficiency type C
  88. Lactate dehydrogenase deficiency
  89. Lactic acidosis congenital infantile
  90. Ladda Zonana Ramer syndrome
  91. Lagophthalmia cleft lip palate
  92. Lambdoid synostosis familial
  93. Lambert syndrome
  94. Lamellar ichthyosis
  95. Lamellar recessive ichthyosis
  96. Landouzy-Dejerine muscular dystrophy
  97. Landy Donnai syndrome
  98. Langdon Down
  99. Langer Nishino Yamaguchi syndrome
  100. Langerhans cell granulomatosis
  101. Laparoschisis
  102. Laplane Fontaine Lagardere syndrome
  103. Large B cell diffuse lymphoma
  104. Laron-type dwarfism
  105. Larsen like osseous dysplasia dwarfism
  106. Larsen like syndrome lethal type
  107. Larsen syndrome craniosynostosis
  108. Larsen syndrome, dominant type
  109. Larsen syndrome, recessive type
  110. Larsen syndrome
  111. Laryngeal abductor paralysis mental retardation
  112. Laryngeal cleft
  113. Laryngeal web congenital heart disease short stature
  114. Laryngocele
  115. Laryngomalacia dominant congenital
  116. Larynx atresia
  117. Lassueur-Graham-Little syndrome
  118. Late onset dominant cone dystrophy
  119. Lateral body wall defect
  120. Laterality defects dominant
  121. Lattice corneal dystrophy type 2
  122. Launois-Bensaude adenolipomatosis
  123. Laurence Prosser Rocker syndrome
  124. Laurin Sandrow syndrome
  125. Laxova Brown Hogan syndrome
  126. LBWC - amniotic bands
  127. LBWD syndrome
  128. Leao Ribeiro Da Silva syndrome
  129. Learman syndrome
  130. Leber miliary aneurysm
  131. Leber's Disease
  132. Lecithin cholesterol acyltransferase deficiency
  133. Lee Root Fenske syndrome
  134. Left ventricle-aorta tunnel
  135. Leg absence deformity cataract
  136. Lehman syndrome
  137. Leichtman Wood Rohn syndrome
  138. Leifer Lai Buyse syndrome
  139. Leigh disease
  140. Leigh syndrome, French Canadian type
  141. Leiner disease
  142. Leiomyomatosis of oesophagus cataract hematuria
  143. Leipala Kaitila syndrome
  144. Leisti Hollister Rimoin syndrome
  145. Lentiginosis in context of NF
  146. Lenz Majewski hyperostotic dwarfism
  147. Lenz microphthalmia syndrome
  148. Leptomeningeal capillary - venous angiomatosis
  149. Leri pleonosteosis
  150. Leri-Weil syndrome
  151. Lethal chondrodysplasia Moerman type
  152. Lethal chondrodysplasia Seller type
  153. Lethal congenital contracture syndrome
  154. Leukemia subleukemic
  155. Leukemia, B-Cell, chronic
  156. Leukemia, Myeloid
  157. Leukemia, T-Cell, chronic
  158. Leukocyte adhesion deficiency type 2
  159. Leukocytoclastic angiitis
  160. Leukodystrophy reunion type
  161. Leukodystrophy, globoid cell
  162. Leukodystrophy, metachromatic
  163. Leukodystrophy, psuedometachromatic
  164. Leukodystrophy, Sudanophilic
  165. Leukoencephalopathy palmoplantar keratoderma
  166. Leukomelanoderma mental redardation hypotrichosis
  167. Levator syndrome
  168. Levic Stefanovic Nikolic syndrome
  169. Levine Crichley syndrome
  170. Lewandowski Kikolich syndrome
  171. Lewis Pashayan syndrome
  172. Leydig cells hypoplasia
  173. Lhermitte-Duclos disease
  174. Lichen myxedematosus
  175. Lichen planus follicularis
  176. Lichen sclerosis et atrophicus
  177. Lichstenstein syndrome
  178. Lida Kannari syndrome
  179. Light chain disease
  180. Limb deficiencies distal micrognathia
  181. Limb dystonia
  182. Limb reduction defect
  183. Limb scalp and skull defects
  184. Limb transversal defect cardiac anomaly
  185. Limb-body wall complex
  186. Lindsay Burn syndrome
  187. Lindstrom syndrome
  188. Linear hamartoma syndrome
  189. Linear nevus syndrome
  190. Lip lit syndrome
  191. Lipid storage myopathy
  192. Lipidosis with triglycerid storage disease
  193. Lipoamide dehydrogenase deficiency
  194. Lipodystrophy Rieger anomaly diabetes
  195. Lipogranulomatosis
  196. Lipoid proteinosis of Urbach and Wiethe
  197. Lipomatosis central non-encapsulated
  198. Lipomatosis familial benign cervical
  199. Lipomucopolysaccharidosis
  200. Lipoprotein disorder
  201. Lisker Garcia Ramos syndrome
  202. Lison Kornbrut Feinstein syndrome
  203. Lissencephaly immunodeficiency
  204. Lissencephaly syndrome type 2
  205. Lissencephaly, isolated
  206. Lobar atrophy of brain
  207. Lobstein disease
  208. Localized epiphyseal dysplasia
  209. Lockwood Feingold syndrome
  210. Loffredo Cennamo Cecio syndrome
  211. Logic syndrome
  212. Loin pain hematuria syndrome
  213. Loose anagen hair syndrome
  214. Loose anagene syndrome
  215. Lopes Gorlin syndrome
  216. Lopes Marques de Faria syndrome
  217. Lopez Hernandez syndrome
  218. Louis Bar syndrome
  219. Low birth weight dwarfism dysgammaglobulinemia
  220. Lowe Kohn Cohen syndrome
  221. Lowe oculocerebrorenal syndrome
  222. Lowe syndrome
  223. Lower limb anomaly ureteral obstruction
  224. Lower limb deficiency hypospadias
  225. Lower mesodermal defects
  226. Lowry Maclean syndrome
  227. Lowry syndrome
  228. Lowry Wood syndrome
  229. Lowry Yong syndrome
  230. L-transposition and ccTGA
  231. Lubani Al Saleh Teebi syndrome
  232. Lubinsky syndrome
  233. Lucey Driscoll syndrome
  234. Lucky Gelehrter syndrome
  235. Luiphobia
  236. Lujan-Fryns syndrome
  237. Lumbar malsegmentation short stature
  238. Lundberg syndrome
  239. Lung agenesis heart defect thumb anomalies
  240. Lung herniation congenital defect of sternem
  241. Lupus anticoagulant, familial
  242. Lurie Kletsky syndrome
  243. Luteinizing hormone releasing hormone, deficiency of with ataxia
  244. Lutz Richner Landolt syndrome
  245. Lutz-Lewandowsky epidermodysplasia verruciformis
  246. Lymph node neoplasm
  247. Lymphadenopathy, angioimmunoblastic with dysproteinemia
  248. Lymphangiectasies lymphoedema type Hennekam type
  249. Lymphangiectasis
  250. Lymphangiomatosis, pulmonary
  251. Lymphangiomyomatosis
  252. Lymphatic filariasis
  253. Lymphatic neoplasm
  254. Lymphedema distichiasis
  255. Lymphedema hereditary type 1
  256. Lymphedema hereditary type 2
  257. Lymphedema ptosis
  258. Lymphedema, congenital
  259. Lymphedema-Distichiasis syndrome
  260. Lymphoblastic lymphoma
  261. Lymphocytes reduced or absent
  262. Lymphocytic colitis
  263. Lymphocytic infiltrate of Jessner
  264. Lymphocytic vasculitis
  265. Lymphoid hamartoma
  266. Lymphoma, AIDS-related
  267. Lymphoma, gastric non Hodgkins type
  268. Lymphoma, large-cell, immunoblastic
  269. Lymphoma, large-cell
  270. Lymphoma, small cleaved-cell, diffuse
  271. Lymphoma, small cleaved-cell, follicular
  272. Lymphomatoid granulomatosis
  273. Lymphomatoid papulosis (LyP)
  274. Lymphomatous thyroiditis
  275. Lynch Lee Murday syndrome
  276. Lynch-Bushby syndrome
  277. Lyngstadaas syndrome
  278. LyP (lymphomatoid papulosis)
  279. Lysine alpha-ketoglutarate reductase deficiency
  280. Lysosomal alpha-D-mannosidase deficiency
  281. Lysosomal beta-mannosidase deficiency
  282. Lysosomal disorders
  283. Lysosomal glycogen storage disease with normal acid maltase activity
  284. Mac Dermot Patton Williams syndrome
  285. Mac Dermot Winter syndrome
  286. Macias Flores Garcia Cruz Rivera syndrome
  287. Mackay Shek Carr syndrome
  288. Macleod Fraser syndrome
  289. Macrocephaly cutis marmorata telangiectatica
  290. Macrocephaly dominant type
  291. Macrocephaly mental retardation facial dysmorphism
  292. Macrocephaly mesodermal hamartoma spectrum
  293. Macrocephaly mesomelic arms talipes
  294. Macrocephaly pigmentation large hands feet
  295. Macrocephaly short stature paraplegia
  296. Macrodactyly of the foot
  297. Macrodactyly of the hand
  298. Macroepiphyseal dysplasia Mcalister Coe type
  299. Macroglossia exomphalos gigantism
  300. Macrogyria pseudobulbar palsy
  301. Macrophagic myofasciitis
  302. Macrosomia developmental delay dysmorphism
  303. Macrosomia microphthalmia cleft palate
  304. Macrothrombocytopenia progressive deafness
  305. Macrothrombocytopenia with leukocyte inclusions
  306. Macular corneal dystrophy
  307. Macular dystrophy, vitelliform
  308. Macules hereditary congenital hypopigmented and hyperpigmented
  309. Madelung's disease
  310. Madokoro Ohdo Sonoda syndrome
  311. Maffucci syndrome
  312. Mageirocophobia
  313. Magnesium defect in renal tubular transport of
  314. Magnesium wasting renal
  315. Malakoplakia
  316. Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
  317. Male pseudohermaphroditism due to defective LH molecule
  318. Malformations in neuronal migration
  319. Malignant astrocytoma
  320. Malignant fibrous histiocytoma
  321. Malignant germ cell tumor
  322. Malignant hyperthermia arthrogryposis torticollis
  323. Malignant hyperthermia susceptibility type 1
  324. Malignant hyperthermia susceptibility type 2
  325. Malignant hyperthermia susceptibility type 3
  326. Malignant hyperthermia susceptibility type 4
  327. Malignant hyperthermia susceptibility type 5
  328. Malignant hyperthermia susceptibility type 6
  329. Malignant mesenchymal tumor
  330. Malignant mixed Mullerian tumor
  331. Malignant paroxysmal ventricular tachycardia
  332. Malpuech facial clefting syndrome
  333. Mandibuloacral dysplasia
  334. Mandibulofacial dysostosis deafness postaxial polydactly
  335. Manic-depressive psychosis, genetic types
  336. Manouvrier syndrome
  337. Mansonelliasis
  338. Mantle cell lymphoma
  339. Marashi Gorlin syndrome
  340. Marchiafava Bignami disease
  341. Marchiafava-Micheli disease
  342. Marcus Gunn phenomenon
  343. Marden Walker like syndrome
  344. Marden-Walker syndrome
  345. Marek disease
  346. Marfan Syndrome type II
  347. Marfan Syndrome type III
  348. Marfan Syndrome type IV
  349. Marfan Syndrome type V
  350. Marfan-like syndrome, Boileau type
  351. Marfan-Like syndrome
  352. Marfanoid craniosynostosis syndrome
  353. Marfanoid hypermobility
  354. Marfanoid mental retardation syndrome autosomal
  355. Marginal glioneuronal heterotopia
  356. Marie type ataxia
  357. Marie Unna congenital hypotrichosis
  358. Marinesco Sjogren like syndrome
  359. Marinesco-Sjogren syndrome
  360. Marion Mayers syndrome
  361. Markel Vikkula Mulliken syndrome
  362. Marles Greenberg Persaud syndrome
  363. Maroteaux Cohen Solal Bonaventure syndrome
  364. Maroteaux Fonfria syndrome
  365. Maroteaux Le Merrer Bensahel syndrome
  366. Maroteaux Stanescu Cousin syndrome
  367. Maroteaux Verloes Stanescu syndrome
  368. Maroteaux-Lamy syndrome
  369. Marphanoid syndrome type De Silva
  370. Marsden Nyhan Sakati syndrome
  371. Marsden syndrome
  372. Marshall syndrome
  373. Marshall-Smith syndrome
  374. Martinez Monasterio Pinheiro syndrome
  375. Martsolf Reed Hunter syndrome
  376. Martsolf syndrome
  377. Mass syndrome
  378. Massa Casaer Ceulemans syndrome
  379. Mastocytosis, short stature, hearing loss
  380. Mastroiacovo De Rosa Satta syndrome
  381. Mastroiacovo Gambi Segni syndrome
  382. Maternal hyperphenylalaninemia
  383. Maternally inherited diabetes and deafness
  384. Mathieu De Broca Bony syndrome
  385. Matsoukas Liarikos Giannika syndrome
  386. Matthew-Wood syndrome
  387. Maumenee syndrome
  388. Maxillary double lip
  389. Maxillofacial dysostosis
  390. Maxillonasal dysplasia, Binder type
  391. Mayer Rokitanski Kuster syndrome
  392. May-Hegglin Anomaly
  393. McAlister Crane syndrome
  394. McCallum Macadam Johnston syndrome
  395. McDonough syndrome
  396. McDowall syndrome
  397. McGillivray syndrome
  398. McKusick Kaufman syndrome
  399. McKusick type metaphyseal chondrodysplasia
  400. McLain Debakian syndrome
  401. McPherson Clemens syndrome
  402. McPherson Robertson Cammarano syndrome
  403. Meacham Winn Culler syndrome
  404. Meadows syndrome
  405. Meckel like syndrome
  406. Meckel syndrome
  407. Medeira Dennis Donnai syndrome
  408. Median cleft lip corpus callosum lipoma skin polyps
  409. Median nodule of the upper lip
  410. Mediastinal endodermal sinus tumors
  411. Medium-chain Acyl-CoA dehydrogenase deficiency
  412. Medrano Roldan syndrome
  413. Medullary cystic disease
  414. Medullary thyroid carcinoma
  415. Megacystis microcolon intestinal hypoperistalsis syndrome
  416. Megaduodenum
  417. Megaepiphyseal dwarfism
  418. Megalencephalic leukodystrophy
  419. Megalencephaly-cystic leukodystrophy
  420. Megalocornea mental retardation syndrome
  421. Megalocytic Interstitial Nephritis
  422. Mehes syndrome
  423. Mehta Lewis Patton syndrome
  424. Meier Blumberg Imahorn syndrome
  425. Meier Rotschild syndrome
  426. Meige syndrome
  427. Meigel disease
  428. Meinecke Pepper syndrome
  429. Meinecke syndrome
  430. Melanoma type 1
  431. Melanoma type 2
  432. Melanoma, familial
  433. Melanoma-astrocytoma syndrome
  434. Melanosis neurocutaneous
  435. Melhem Fahl syndrome
  436. Melnick-Needles osteodysplasty
  437. Melnick-Needles syndrome
  438. Membranoproliferative glomerulonephritis (type II)
  439. Mendelian susceptibility to atypical mycobacteria
  440. Menetrier's disease
  441. Mengel Konigsmark syndrome
  442. Meningeal angiomatosis cleft hypoplastic left heart
  443. Meningioma 1
  444. Meningitis, meningococcal
  445. Meningoencephalocele
  446. Meningoencephalocele-arthrogryposis-hypoplastic thumb
  447. Meningomyelocele
  448. Mental deficiency-epilepsy-endocrine disorders
  449. Mental mixed retardation deafnes clubbed digits
  450. Mental retardation anophthalmia craniosynostosis
  451. Mental retardation arachnodactyly hypotonia telangiectasia
  452. Mental retardation athetosis microphthalmia
  453. Mental retardation blepharophimosis obesity web neck
  454. Mental retardation Buenos Aires type
  455. Mental retardation cataracts calcified pinnae myopathy
  456. Mental retardation coloboma slimness
  457. Mental retardation contractural arachnodactyly
  458. Mental retardation dysmorphism hypogonadism diabetes
  459. Mental retardation epilepsy bulbous nose
  460. Mental retardation epilepsy
  461. Mental retardation gynecomastia obesity X linked
  462. Mental retardation hip luxation G6PD variant
  463. Mental retardation hypocupremia hypobetalipoproteinemia
  464. Mental retardation hypotonia skin hyperpigmentation
  465. Mental retardation macrocephaly coarse facies hypotonia
  466. Mental retardation microcephaly phalangeal facial
  467. Mental retardation microcephaly unusual facies
  468. Mental retardation Mietens Weber type
  469. Mental retardation multiple nevi
  470. Mental retardation myopathy short stature endocrine defect
  471. Mental retardation nasal hypoplasia obesity genital hypoplasia
  472. Mental retardation nasal papillomata
  473. Mental retardation osteosclerosis
  474. Mental retardation progressive spasticity
  475. Mental retardation psychosis macroorchidism
  476. Mental retardation short broad thumbs
  477. Mental retardation short stature absent phalanges
  478. Mental retardation short stature Bombay phenotype
  479. Mental retardation short stature cleft palate unusual facies
  480. Mental retardation short stature deafness genital
  481. Mental retardation short stature hand contractures genital anomalies
  482. Mental retardation short stature heart and skeletal anomalies
  483. Mental retardation short stature hypertelorism
  484. Mental retardation short stature microcephaly eye
  485. Mental retardation short stature ocular and articular anomalies
  486. Mental retardation short stature scoliosis
  487. Mental retardation short stature unusual facies
  488. Mental retardation short stature wedge shaped epiphyses
  489. Mental retardation skeletal dysplasia abducens palsy
  490. Mental retardation Smith Fineman Myers type
  491. Mental retardation spasticity ectrodactyly
  492. Mental retardation unusual facies Ampola type
  493. Mental retardation unusual facies Davis Lafer type
  494. Mental retardation unusual facies talipes hand anomalies
  495. Mental retardation unusual facies
  496. Mental retardation Wolff type
  497. Mental retardation X linked Atkin type
  498. Mental retardation X linked borderline Maoa metabolism anomaly
  499. Mental retardation X linked Brunner type
  500. Mental retardation X linked dysmorphism
  501. Mental retardation X linked dystonia dysarthria
  502. Mental retardation X linked severe Gustavson type
  503. Mental retardation X linked short stature obesity
  504. Mental retardation X linked Tranebjaerg type seizures psoriasis
  505. Mental retardation, unexplained
  506. Mental retardation, X linked, Marfanoid habitus
  507. Mental retardation, X linked, nonspecific
  508. Mental retardation, X-linked 14
  509. Mental retardation-polydactyly-uncombable hair
  510. Meretoja syndrome
  511. Merkle tumors
  512. Merlob Grunebaum Reisner syndrome
  513. Merlob syndrome
  514. Mesangial sclerosis, diffuse
  515. Mesenteric ischemia
  516. Mesenteric panniculitis
  517. Mesodermal defects lower type
  518. Mesomelia synostoses
  519. Mesomelia
  520. Mesomelic dwarfism cleft palate camptodactyly
  521. Mesomelic dwarfism Langer type
  522. Mesomelic dwarfism Nievergelt type
  523. Mesomelic dwarfism Reinhardt Pfeiffer type
  524. Mesomelic dysplasia skin dimples
  525. Mesomelic dysplasia Thai type
  526. Mesomelic syndrome Pfeiffer type
  527. Metabolic Syndrome X
  528. Metacarpals 4 and 5 fusion
  529. Metageria
  530. Metaphyseal anadysplasia
  531. Metaphyseal chondrodysplasia Schmid type
  532. Metaphyseal chondrodysplasia Spahr type
  533. Metaphyseal chondrodysplasia, others
  534. Metaphyseal dysostosis mental retardation conductive deafness
  535. Metaphyseal dysplasia maxillary hypoplasia brachydactyly
  536. Metaphyseal dysplasia Pyle type
  537. Metastatic insulinoma
  538. Metatarsus adductus
  539. Metatrophic dysplasia
  540. Metatropic dwarfism
  541. Methimazole antenatal infection
  542. Methionine adenosyl transferase deficiency
  543. Methyl mercury antenatal infection
  544. Methylcobalamin deficiency cbl G type
  545. Methylcobalamin deficiency, cbl E complementation type
  546. Methylenetetrahydrofolate reductase deficiency
  547. Methylmalonic acidemia with homocystinuria
  548. Methylmalonic aciduria microcephaly cataract
  549. Methylmalonicacidemia with homocystinuria, cbl D
  550. Methylmalonicaciduria with homocystinuria, cbl F
  551. Methylmalonicaciduria, vitamin B12 unresponsive, mut-0
  552. Methylmalonyl-Coenzyme A mutase deficiency
  553. Mevalonate kinase deficiency
  554. Meyenburg-Altherr-Uehlinger syndrome