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 2
Phenotype entries for this disease 2
Associated with 1 gene DDX3X
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00301079 - submitted - F no Japan - - - - - MRXSSB - DDX3X DDX3X 1 1 Tadashi Kaname
00320216 152769 - - F - Germany - - 0 - - 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
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