Disease #05387 (CSS6 (Coffin-Siris syndrome, type 6 (CSS6)), OMIM:617808)

Official abbreviation CSS6
Name Coffin-Siris syndrome, type 6 (CSS6)
OMIM ID 617808
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ARID2
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2018-02-01 14:03:00 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00377148 180573 - - F - - - - - - - CSS6 Abnormality of body height, Abnormality of the face, Downslanted palpebral fissures, Global developmental delay, Growth delay, Abnormal foot morphology, Pes cavus, Abnormal facial shape, Curly hair, Short stature, Abnormality of hair texture, Abnormality of higher mental function, Thyrotoxicosis with diffuse goiter, Neurodevelopmental delay, Cognitive impairment, Graves disease, Slanting of the palpebral fissure ARID2 ARID2 1 1 Andreas Laner
00420924 207566 - - F ? Syria - - - - - CSS6 Intellectual disability, mild, Lateral ventricular asymmetry, Impaired social interactions ARID2 ARID2 1 1 Andreas Laner
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