| Disease Browser
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Parent Node:
 Corneal Dystrophies, Hereditary (D003317) |
Parent Node:
Ichthyosis (D007057) |
Parent Node:
Intellectual Disability (D008607) |
Parent Node:
Microcephaly (D008831) |
..Starting node
.. Sammartino De Crecchio Syndrome (C537229)
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Child Nodes:
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Sister Nodes: |
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
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..Achalasia microcephaly (C536010)
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..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
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..AL-RAQAD SYNDROME (OMIM:616459)
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..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
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..Amish lethal microcephaly (C538247)  L: 00112;
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..Anonychia, Total, with Microcephaly (C564606)
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..Aphalangia syndactyly microcephaly (C537787)
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..ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
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..Ataxia-Microcephaly-Cataract Syndrome (C563086)
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..Autosomal Recessive Primary Microcephaly (C579935)
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..Baetz-Greenwalt syndrome (C537795)
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..Baraitser Brett Piesowicz syndrome (C537905)
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..BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
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..Battaglia Neri syndrome (C537662)
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..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
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..Bixler Christian Gorlin syndrome (C537632)
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..Boudhina Yedes Khiari syndrome (C537939)
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..Brachydactyly, Type A2, With Microcephaly (C565894)
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..Branchial arch syndrome X-linked (C537102)
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..Bullous Dystrophy, Hereditary Macular Type (C563065)
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..CAMFAK syndrome (C537965)
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..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
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..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
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..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
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..Chromosome 15q26-Qter Deletion Syndrome (C567232)
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..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
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..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
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..CK SYNDROME (OMIM:300831)
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..Cohen syndrome (C536438)
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..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
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..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
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..Dubowitz syndrome (C535718)
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..Ellis Yale Winter syndrome (C536205)
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..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
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..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
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..Filippi syndrome (C538152)
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..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
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..Galloway Mowat syndrome (C537548)
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..GOMBO syndrome (C537284)
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..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
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..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
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..Hadziselimovic Syndrome (C567850)
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..Halal syndrome (C535622)
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..Hersh Podruch Weisskopk syndrome (C538114)
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..Hoyeraal Hreidarsson syndrome (C536068)
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..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
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..Hypospadias-Mental Retardation Syndrome (C563067)
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..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
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..Jorgenson Lenz syndrome (C536292)
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..Kaufman oculocerebrofacial syndrome (C537013)
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..Lambotte syndrome (C537549)
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..LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
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..LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
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..Lissencephaly 3 (C566908)
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..LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
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..Lowry Wood syndrome (C537038)
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..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
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..MacDermot Winter syndrome (C537714)
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..MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
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..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
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..MEHMO syndrome (C537451)
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..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
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..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
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..Mental Retardation, X-Linked, Syndromic 9 (C567474)
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..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
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..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
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..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
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..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
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..Microcephalic primordial dwarfism Toriello type (C537321)
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..MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
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..MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
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..MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
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..MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
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..MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
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..MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616486)
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..MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
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..MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
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..MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
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..MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
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..Microcephaly albinism digital anomalies syndrome (C537322)
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..Microcephaly autosomal dominant (C537323)
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..Microcephaly cervical spine fusion anomalies (C537325)
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..Microcephaly deafness syndrome (C537326)
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..Microcephaly microphthalmos blindness (C537541)
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..Microcephaly nonsyndromal (C537542)
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..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
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..Microcephaly seizures genital hypoplasia (C537540)
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..Microcephaly seizures mental retardation heart disorders (C537544)
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..Microcephaly sparse hair mental retardation seizures (C537545)
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..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
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..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
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..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
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..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
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..Microcephaly with Simplified Gyral Pattern (C566332)
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..Microcephaly with spastic quadriplegia (C537546)
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..MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
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..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
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..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
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..MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
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..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
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..Microcephaly, Macrotia, And Mental Retardation (C566525)
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..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
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..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
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..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
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..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
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..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
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..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
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..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
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..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
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..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
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..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
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..MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
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..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
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..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
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..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
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..MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
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..MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
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..MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
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..MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
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..Microcephaly-Micromelia Syndrome (C565382)
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..Microhydranencephaly (C537555)
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..Microphthalmia and mental deficiency (C537462)
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..Milner Khallouf Gibson syndrome (C537473)
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..Mirhosseini-Holmes-Walton syndrome (C538367)
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..Mowat-Wilson syndrome (C536990)
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..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
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..Neu Laxova syndrome (C536405)
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..Nijmegen Breakage Syndrome-Like Disorder (C567767)
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..Oculodigitoesophagoduodenal syndrome (C537734)
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..Oculopalatocerebral Syndrome (C564935)
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..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
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..Paine syndrome (C538101)
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..Partington Anderson syndrome (C536299)
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..Phosphoglycerate Dehydrogenase Deficiency (C566618)
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..Phosphoserine Aminotransferase Deficiency (C567032)
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..Porencephaly (D065708)  1
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..PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
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..Raine syndrome (C535282)
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..RAJAB SYNDROME (OMIM:613658)
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..Sammartino De Crecchio Syndrome (C537229)
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..Say Barber Miller syndrome (C536618)
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..Say syndrome (C536621)
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..Schimke X-linked mental retardation syndrome (C536630)
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..Seckel syndrome 1 (C537533)
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..Seckel syndrome 2 (C537534)
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..Seckel Syndrome 3 (C563881)
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..SECKEL SYNDROME 4 (OMIM:613676)
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..Secretory Diarrhea, Myopathy, and Deafness (C564382)
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..Seemanova Lesny syndrome (C537536)
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..SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
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..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
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..Silengo Lerone Pelizza syndrome (C537336)
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..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
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..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
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..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
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..Teebi Kaurah syndrome (C536948)
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..Trichodental syndrome (C536551)
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..Tsukahara Syndrome (C566376)
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..Warburg Sjo Fledelius syndrome (C536681)
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..Warburton Anyane Yeboa syndrome (C536682)
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..WEBB-DATTANI SYNDROME (OMIM:615926)
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..Winship Viljoen Leary syndrome (C536711)
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..YOU-HOOVER-FONG SYNDROME (OMIM:616954)
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..Zerres Rietschel Majewski syndrome (C536724)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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