Global Variome shared LOVD

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Phenotype #0000051856 Individual ID 00072150 Associated disease CSCSC1 Phenotype details no decreased head circumference present at birth (-HP:0011451), no reduced head circumference – current (-HP:0000252), cleft palate (HP:0000175), creases limbs (HP:?), creases neck (HP:?), flat face (HP:0012368), microphthalmia (HP:0000568), short palpebral fissures (HP:0012745), epicanthal folds (HP:0000286), low broad nasal bridge (-HP:0000431), lowset (HP:0000369), small dysplastic ears (HP:0000377), hypoplastic scrotum (HP:0000046), coronal hypospadias (HP:0008743), intellectual disability, moderate (HP:0002342) to intellectual disability, severe (HP:0010864), mildly dilated lateral ventricles (HP:0006956), corpus callosum hypoplasia (HP:0002079), seizures (HP:0001250) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y15m (15 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-30 11:03:24 +02:00 (CEST) Date last edited 2017-03-24 20:24:58 +01:00 (CET)

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