About: Syndromic microphthalmia

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Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia with other non-ocular malformations. Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. Syndromic microphthalmias are caused by mutations in genes related to embryonic craniofacial development, and they are typically classified by their genetic cause.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Syndromale Mikrophthalmie (de) Syndromic microphthalmia (en)
rdfs:comment	Syndromale Mikrophthalmie ist eine Sonderform einer im Rahmen von Syndromen auftretenden Mikrophthalmie, meist mit anderen Fehlbildungen kombiniert. (de) Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia with other non-ocular malformations. Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. Syndromic microphthalmias are caused by mutations in genes related to embryonic craniofacial development, and they are typically classified by their genetic cause. (en)
foaf:name	Syndromic microphthalmia (en)
name	Syndromic microphthalmia (en)
dct:subject	Rare diseases Congenital disorders of eyes Genetic disorders by system
Wikipage page ID	68917471 (xsd:integer)
Wikipage revision ID	1121543170 (xsd:integer)
Link from a Wikipage to another Wikipage	BCL-6 corepressor FANCA FANCD2 FANCE FANCI FANCL FREM1 FREM2 MOMO syndrome NHS (gene) MKS1 Biemond syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome Curry–Jones syndrome dbr:Dystroglycan GRIP1 (gene) PORCN PTCH1 POMT1 Genetic testing Norrie disease MAB21L2 Oculofaciocardiodental syndrome Renpenning's syndrome Norrin Cockayne syndrome GJA1 Branchio-oculo-facial syndrome TFAP2A Orthodenticle homeobox 2 POMGNT1 Calcium-binding mitochondrial carrier protein SCaMC-1 Fraser syndrome Frontonasal dysplasia Fryns-Aftimos syndrome Fryns syndrome Hallermann–Streiff syndrome Hemifacial microsomia Joubert syndrome Fukutin Fukutin-related protein Popliteal pterygium syndrome Meckel–Gruber syndrome Microphthalmia, syndromic 12 (MCOPS12) Microphthalmia-associated transcription factor Microphthalmia–dermal aplasia–sclerocornea syndrome TMEM216 Muscle–eye–brain disease CHD7 Actin, cytoplasmic 2 Aicardi syndrome Duane-radial ray syndrome GDF3 GDF6 GLI2 HDAC1 HMGB3 DLX1 DLX2 Family with sequence similarity 111 member a PUF60 VAX1 RAB3GAP2 Fanconi anemia Osteoporosis-pseudoglioma syndrome Beta-actin Chromosome 14 Focal dermal hypoplasia KIAA1109 KMT2D Kabuki syndrome Kapur–Toriello syndrome Kenny-Caffey syndrome Lenz microphthalmia syndrome HCCS (gene) Retinoic acid receptor beta Rare diseases ALX1 ALX3 ERCC6 Papillorenal syndrome LRP5 Congenital disorders of eyes Genetic disorders by system Birth defect Ectrodactyly

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