Disease #05385 (CSS1;MRD12 (Coffin-Siris syndrome, type 1 (MRD12)), OMIM:135900)

Official abbreviation CSS1;MRD12
Name Coffin-Siris syndrome, type 1 (MRD12)
OMIM ID 135900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 9
Associated with 1 gene ARID1B
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2018-02-01 13:56:41 +01:00 (CET)
Date last edited 2023-11-03 14:52:35 +01:00 (CET)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00080903 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CSS1;MRD12 Mental retardation, autosomal dominant 12 (OMIM:614562) ARID1B ARID1B 1 1 Daniel Trujillano
00080976 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CSS1;MRD12 Mental retardation, autosomal dominant 12 (OMIM:614562) ARID1B ARID1B 1 1 Daniel Trujillano
00247797 2117.01 - - F - Italy - - - - - CSS1;MRD12 - ARID1B ARID1B 1 1 Maria Cristina Aspromonte
00318191 172171 - - F ? Russia - - - - - CSS1;MRD12 Prenatal diagnostics, corpus callosum genesis, karyotype 46,XY; Abnormality of prenatal development or birth, Brain imaging abnormality, ARID1B ARID1B 1 1 Andreas Laner
00320075 172099 - - F - Poland Polnish-Turkish - - - - CSS1;MRD12 mental retardation, regressive development with unlearning of already shown abilities (language), rigid behaviour; HPO-Terms: (+) Restrictive behavior,(+) Global developmental delay,(+) Specific learning disability,(+) Progressive language deterioration,(+) Neurodevelopmental abnormality,(+) Cognitive impairment ARID1B ARID1B 1 1 Andreas Laner
00326425 156271 - - M ? - - - - - - CSS1;MRD12 (+) Abnormality of the face,(+) Single umbilical artery,(+) Global developmental delay,(+) Growth delay,(+) Nail dysplasia,(+) 3-4 toe syndactyly ARID1A ARID1A 1 1 Andreas Laner
00373716 iw098 - - F no China Chinese - - - - CSS1;MRD12 HP:0004322; HP:0001249; HP:0002750; HP:0001263; HP:0001999; HP:0009381 ARID1B ARID1B 1 1 Wenjuan Qiu
00379784 172138 - - F no Germany - - - - - CSS1;MRD12 Intellectual disability, Seizure, Intellectual disability, mild, Global developmental delay, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Morphological central nervous system abnormality, Abnormality of neuronal migration, Abnormal nervous system physiology, Neurodevelopmental delay, Neurodevelopmental abnormality ARID1B ARID1B 1 1 Andreas Laner
00381541 183690 - - F no Germany - - - - - CSS1;MRD12 Autism, Autistic behavior, Delayed speech and language development, Global developmental delay, Motor delay, Absent speech, Delayed gross motor development, Developmental regression, Abnormal cerebral artery morphology, Receptive language delay ARID1B ARID1B 1 1 Andreas Laner
00426384 209906 - - F no Germany - - - - - CSS1;MRD12 Dental crowding, Autism, Inflexible adherence to routines or rituals, Motor stereotypy, Autism with high cognitive abilities, Hypertrichosis, Intellectual disability, mild, Severe expressive language delay, Focal-onset seizure, Echolalia, Abnormal hair quantity, Hair-pulling, Abnormal social behavior, Sound sensitivity, Overfriendliness ARID1B ARID1B 1 1 Andreas Laner
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