Disease #04098 (MRD26 (mental retardation, autosomal dominant, type 26 (MRD26)), OMIM:615834)

Official abbreviation MRD26
Name mental retardation, autosomal dominant, type 26 (MRD26)
OMIM ID 615834
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 16
Phenotype entries for this disease 15
Associated with 1 gene AUTS2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-04-02 10:32:38 +02:00 (CEST)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00386931 - PubMed: Beunders 2013 - M - - - - - - - MRD26 mild intellectual disability - AUTS2 1 1 Alexander Groffen
00386933 - PubMed: Beunders 2013 - F - - - - - - - MRD26 Intellectual disability/developmental delay, structural brain anomaly, cerebral palsy/spasticity, white matter abnormalities, ptosis, strabismus - AUTS2 1 1 Alexander Groffen
00386934 - PubMed: Beunders 2013 - M - - - - - - - MRD26 low birth weight, short stature, microcephaly, intellectual disability / developmental delay, autistic behavior, strabismus - AUTS2 1 1 Alexander Groffen
00386935 - PubMed: Beunders 2013 - M - - - - - - - MRD26 - - - - 1 Alexander Groffen
00386936 - PubMed: Beunders 2013 - F - - - - - - - MRD26 microcephaly, intellectual disability / developmental delay, proptosis, short palpebral fissures, narrow mouth, plachiocephaly, brachycephaly, facial asymmetry, prominent forehead, unilateral cleft lip, patent foramen ovale / atrial septum defect - AUTS2 1 1 Alexander Groffen
00386937 - PubMed: Beunders 2013 - F - - - - - - - MRD26 microcephaly, feeding difficulties, intellectual disability / developmental delay, autism,generalized hypotonia, highly arched eyebrows, short palpebral fissures, epicathal fold, deep/broad nasal bridge, short/upturned philtrum, narrow mouth - AUTS2 1 1 Alexander Groffen
00386940 - PubMed: Beunders 2013 - F - - - - - - - MRD26 low birth weight, short stature, microcephaly, feeding difficulties, mild intellectual disability, highly arched eyebrows, hypertelorism, proptosis, short palpebral fissures, ptosis, strabismus, prominent nasal tip, short/upturned philtrum, micro/retrognathia, low set ears, narrow mouth, low columella - AUTS2 1 1 Alexander Groffen
00387426 - PubMed: Beunders 2013 - M - - - - - - - MRD26 short stature, microcephaly, intellectual disability/developmental delay, hyperactivity/ADHD, cerebral palsy/spasticity, epicanthal fold, downslant, deep/broad nasal bridge, narrow mouth, tight heel cords - AUTS2 1 1 Alexander Groffen
00387432 - PubMed: Beunders 2013 - M - - - - - - - MRD26 short stature, microcephaly, intellectual disability/developmental delay, cerebral palsy/spasticity, hypertelorism, epicanthal fold, micro/retrognathia, low set ears, large hands and feet - AUTS2 1 1 Alexander Groffen
00387433 - PubMed: Beunders 2013 - F - - - - - - - MRD26 short stature, microcephaly, feeding difficulties, moderate intellectual disability/developmental delay, autism, generalized hypotonia, highly arched eyebrows, hypertelorism, proptosis, short and upslanting palpebral fissures, ptosis, strabismus, prominent nasal tip, anteverted nares, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, low set ears, narrow mouth, short forehead, kyphosis/scoliosis, arthrogryposis/shallow palmar creases - AUTS2 1 1 Alexander Groffen
00387434 - PubMed: Beunders 2013 - F - - - - - - - MRD26 low birth weight, short stature, microcephaly, mild to moderate ID/developmental delay, cerebral palsy/spasticity, hyperintense signal periventricular white matter, epicanthal fold, strabismus, prominent nasal tip, anteverted nares, ear pit, narrow mouth, mild kyphosis/scoliosis, tight heel cords, hernia umbilicalis/inguinalis, sacral dimple - AUTS2 1 1 Alexander Groffen
00387436 - PubMed: Beunders 2013 - F - - - - - - - MRD26 short stature, microcephaly, mild intellectual disability/developmental delay, generalized hypotonia, cerebral palsy/spasticity, highly arched eyebrows, proptosis, epicanthal fold, metopic synostosis - AUTS2 1 1 Alexander Groffen
00387439 - PubMed: Beunders 2013 - F - - - - - - - MRD26 premature birth, low birth weight, feeding difficulties, intellectual disability/developmental delay, autism, generalized hypotonia, intraventricular hemorrhage, cerebral palsy/spasticity, hypertelorism, tight heel cords - AUTS2 1 1 Alexander Groffen
00387440 - PubMed: Beunders 2013 - M - - - - - - - MRD26 short stature, microcephaly, feeding difficulties, severe intellectual disability/developmental delay, autism, almost no speech, generalized hypotonia, cerebral palsy/spasticity, ataxic gait, highly arched eyebrows, hypertelorism, proptosis, ptosis, epicanthal fold, deep/broad nasal bridge, short/upturned philtrum, micro/retrognathia, narrow mouth, prominent lips, hernia umbilicalis/inguinalis - AUTS2 1 1 Alexander Groffen
00435318 261901 - - M no ? (unknown) - - - - - MRD26 Autism, Global developmental delay, Small for gestational age, Esodeviation, Delayed speech and language development AUTS2 AUTS2 1 1 Andreas Laner
00456673 309110 - - M no Germany - - - - - MRD26 Intellectual disability, Short attention span, Expressive language delay, Axial hypotonia, Delayed gross motor development, Gait imbalance, Incoordination, Neurodevelopmental delay AUTS2 AUTS2 1 1 Andreas Laner
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