Disease #04440 (MRXSSB (Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type), OMIM:300958)

Official abbreviation MRXSSB
Name Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type
OMIM ID 300958
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant, X-linked recessive
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene DDX3X
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:22 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00301079 patient PubMed: Okano 2020 - F no Japan - - - - - MRXSSB see paper; ... DDX3X DDX3X 1 1 Tadashi Kaname
00320216 152769 - - F - Germany - - - - - MRXSSB (+) Narrow face,(+) Global developmental delay,(+) Abnormal facial shape,(+) Poor coordination,(+) Mild microcephaly; one-year-old female child, possibly Angelman syndrome, linguistically accentuated developmental delay, broad-based gait pattern, facial dysmorphia (long philtrum, anteverted nostrils, long narrow face), relative microcephaly DDX3X DDX3X 1 1 Andreas Laner
00415185 202582 - - F no Germany - - - - - MRXSSB Intellectual disability, Delayed speech and language development, Autistic behavior, cMRI: cortical brain substance reduction, emphasised CSF spaces, arachnoid cyst temporobasal bilaterally DDX3X DDX3X 1 1 Andreas Laner
00420948 206827 - - F no Germany - - - - - MRXSSB Global developmental delay, Axial hypotonia, Microcephaly, Dyskinesia DDX3X DDX3X 1 1 Andreas Laner
00421574 208015 - - F no Germany - - - - - MRXSSB Absent speech, Microcephaly, Autistic behavior, Apraxia, Hypotonia, Broad-based gait, Motor stereotypy, Intellectual disability, mild, Cerebral atrophy DDX3X DDX3X 1 1 Andreas Laner
00433427 252700 - - F no Germany - - - - - MRXSSB Intellectual disability, mild, Delayed speech and language development, Global developmental delay, Sacral segmentation defect, Abnormal neural tube morphology, Syringomyelia, Abnormal conus terminalis morphology, Hypotonia, Smooth philtrum, Thin vermilion border DDX3X DDX3X 1 1 Andreas Laner
00460180 140213 - - F no Germany - - - - - MRXSSB Neurodevelopmental delay, Intellectual disability, Precocious puberty, Abnormal foot morphology DDX3X DDX3X 1 1 Andreas Laner
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