- A -
Absent Eyebrows and Eyelashes with Mental Retardation [MESH:C563111] (1)
Achalasia microcephaly [MESH:C536010] (2)
Agammaglobulinemia, microcephaly, and severe dermatitis [MESH:C538055] (1)
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus [MESH:C565968] (1)
Amish lethal microcephaly [MESH:C538247] (29)
Anonychia, Total, with Microcephaly [MESH:C564606] (1)
Aphalangia syndactyly microcephaly [MESH:C537787] (1)
Ataxia-Microcephaly-Cataract Syndrome [MESH:C563086] (1)
Autosomal Recessive Primary Microcephaly [MESH:C579935] (1)
- B -
Baetz-Greenwalt syndrome [MESH:C537795] (1)
Baraitser Brett Piesowicz syndrome [MESH:C537905] (1)
Battaglia Neri syndrome [MESH:C537662] (1)
Bixler Christian Gorlin syndrome [MESH:C537632] (1)
Boudhina Yedes Khiari syndrome [MESH:C537939] (1)
Brachydactyly, Type A2, With Microcephaly [MESH:C565894] (1)
Branchial arch syndrome X-linked [MESH:C537102] (1)
Bullous Dystrophy, Hereditary Macular Type [MESH:C563065] (1)
- C -
CAMFAK syndrome [MESH:C537965] (1)
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies [MESH:C563414] (1)
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome [MESH:C566861] (1)
Chromosomal Instability with Tissue-Specific Radiosensitivity [MESH:C565848] (1)
Chromosome 15q26-Qter Deletion Syndrome [MESH:C567232] (1)
Cohen syndrome [MESH:C536438] (21)
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities [MESH:C565667] (1)
- D -
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation [MESH:C566408] (1)
Dubowitz syndrome [MESH:C535718] (1)
- E -
Ellis Yale Winter syndrome [MESH:C536205] (1)
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration [MESH:C565594] (1)
Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly [MESH:C565032] (1)
- F -
Filippi syndrome [MESH:C538152] (1)
- G -
GOMBO syndrome [MESH:C537284] (1)
Galloway Mowat syndrome [MESH:C537548] (1)
Growth Deficiency and Mental Retardation with Facial Dysmorphism [MESH:C565358] (1)
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MESH:C537405] (1)
- H -
Hadziselimovic Syndrome [MESH:C567850] (1)
Halal syndrome [MESH:C535622] (1)
Hersh Podruch Weisskopk syndrome [MESH:C538114] (1)
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly [MESH:C565482] (1)
Hypospadias-Mental Retardation Syndrome [MESH:C563067] (1)
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- J -
Jejunal Atresia with Microcephaly and Ocular Anomalies [MESH:C565460] (1)
Jorgenson Lenz syndrome [MESH:C536292] (1)
- K -
Kaufman oculocerebrofacial syndrome [MESH:C537013] (1)
- L -
Lambotte syndrome [MESH:C537549] (1)
Lissencephaly 3 [MESH:C566908] (1)
Lowry Wood syndrome [MESH:C537038] (1)
Lymphedema, microcephaly and chorioretinopathy syndrome [MESH:C537711] (1)
- M -
MEHMO syndrome [MESH:C537451] (1)
MacDermot Winter syndrome [MESH:C537714] (1)
Marfanoid Habitus with Microcephaly and Glomerulonephritis [MESH:C565411] (1)
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia [MESH:C567466] (28)
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face [MESH:C563342] (1)
Mental Retardation, X-Linked, Syndromic 9 [MESH:C567474] (1)
Mental Retardation, X-Linked, Syndromic, Christianson Type [MESH:C567484] (13)
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
Microcephalic osteodysplastic primordial dwarfism, type 1 [MESH:C537577] (1)
Microcephalic osteodysplastic primordial dwarfism, type 3 [MESH:C537320] (1)
Microcephalic primordial dwarfism Toriello type [MESH:C537321] (1)
Microcephaly albinism digital anomalies syndrome [MESH:C537322] (1)
Microcephaly autosomal dominant [MESH:C537323] (1)
Microcephaly cervical spine fusion anomalies [MESH:C537325] (1)
Microcephaly deafness syndrome [MESH:C537326] (1)
Microcephaly microphthalmos blindness [MESH:C537541] (1)
Microcephaly nonsyndromal [MESH:C537542] (1)
Microcephaly pontocerebellar hypoplasia dyskinesia [MESH:C537543] (1)
Microcephaly seizures genital hypoplasia [MESH:C537540] (1)
Microcephaly seizures mental retardation heart disorders [MESH:C537544] (1)
Microcephaly sparse hair mental retardation seizures [MESH:C537545] (1)
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia [MESH:C565381] (1)
Microcephaly with Chorioretinopathy, Autosomal Dominant [MESH:C563583] (1)
Microcephaly with Chorioretinopathy, Autosomal Recessive [MESH:C565379] (1)
Microcephaly with Mental Retardation and Digital Anomalies [MESH:C567101] (1)
Microcephaly with Simplified Gyral Pattern [MESH:C566332] (1)
Microcephaly with spastic quadriplegia [MESH:C537546] (1)
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs [MESH:C563341] (1)
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance [MESH:C567849] (1)
Microcephaly, Macrotia, And Mental Retardation [MESH:C566525] (1)
Microcephaly, Primary Autosomal Recessive, 1 [MESH:C565384] (1)
Microcephaly, Primary Autosomal Recessive, 2 [MESH:C565794] (1)
Microcephaly, Primary Autosomal Recessive, 3 [MESH:C565746] (1)
Microcephaly, Primary Autosomal Recessive, 4 [MESH:C565792] (1)
Microcephaly, Primary Autosomal Recessive, 5 [MESH:C563871] (1)
Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern [MESH:C567221] (1)
Microcephaly, Primary Autosomal Recessive, 6 [MESH:C564247] (1)
Microcephaly, Primary Autosomal Recessive, 7 [MESH:C567198] (1)
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract [MESH:C563296] (1)
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects [MESH:C566377] (1)
Microcephaly, corpus callosum dysgenesis and cleft lip-palate [MESH:C537547] (1)
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism [MESH:C537686] (19)
Microcephaly-Micromelia Syndrome [MESH:C565382] (1)
Microhydranencephaly [MESH:C537555] (1)
Microphthalmia and mental deficiency [MESH:C537462] (1)
Milner Khallouf Gibson syndrome [MESH:C537473] (1)
Mirhosseini-Holmes-Walton syndrome [MESH:C538367] (1)
Mowat-Wilson syndrome [MESH:C536990] (37)
Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation [MESH:C565506] (1)
- N -
Neu Laxova syndrome [MESH:C536405] (1)
Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)
- O -
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)
Oculopalatocerebral Syndrome [MESH:C564935] (1)
Osteogenesis imperfecta congenita, microcephaly, and cataracts [MESH:C537558] (1)
- P -
Paine syndrome [MESH:C538101] (1)
Partington Anderson syndrome [MESH:C536299] (1)
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
- R -
Raine syndrome [MESH:C535282] (29)
- S -
Sammartino De Crecchio Syndrome [MESH:C537229] (1)
Say Barber Miller syndrome [MESH:C536618] (1)
Say syndrome [MESH:C536621] (1)
Schimke X-linked mental retardation syndrome [MESH:C536630] (1)
Seckel Syndrome 3 [MESH:C563881] (1)
Seckel syndrome 1 [MESH:C537533] (63)
Seckel syndrome 2 [MESH:C537534] (7)
Secretory Diarrhea, Myopathy, and Deafness [MESH:C564382] (1)
Seemanova Lesny syndrome [MESH:C537536] (1)
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation [MESH:C566970] (13)
Silengo Lerone Pelizza syndrome [MESH:C537336] (1)
Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal [MESH:C566409] (1)
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality [MESH:C564806] (1)
Spondyloepimetaphyseal dysplasia, Genevieve type [MESH:C535785] (1)
- T -
Teebi Kaurah syndrome [MESH:C536948] (1)
Trichodental syndrome [MESH:C536551] (1)
Tsukahara Syndrome [MESH:C566376] (1)
- W -
Warburg Sjo Fledelius syndrome [MESH:C536681] (15)
Warburton Anyane Yeboa syndrome [MESH:C536682] (1)
Winship Viljoen Leary syndrome [MESH:C536711] (1)
- Z -
Zerres Rietschel Majewski syndrome [MESH:C536724] (1)
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