Disease #00762 (PHMDS (Phelan-McDermid syndrome (PHMDS)), OMIM:606232)

Official abbreviation PHMDS
Name Phelan-McDermid syndrome (PHMDS)
OMIM ID 606232
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 6
Phenotype entries for this disease 5
Associated with 1 gene SHANK3
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Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00332557 175585 - - M ? (Albania) - - 0 - - PHMDS (+) Autism,(+) Autistic behavior,(+) Global developmental delay SHANK3 - 1 1 Andreas Laner
00361925 177406 - - F ? Germany - - 0 - - PHMDS (+) Obesity,(+) Cognitive impairment SHANK3 SHANK3 1 1 Andreas Laner
00396110 189765 - - F no Germany - - 0 - - PHMDS Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact SHANK3 SHANK3 1 1 Andreas Laner
00401300 057P - - F no Spain - - - - - ID, PHMDS - - SHANK3 1 1 Alejandro Brea-Fernández
00408071 189765 - - F ? Germany - - 0 - - PHMDS Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact SHANK3 SHANK3 1 1 Andreas Laner
00409693 196993 - - M ? ? (unknown) - - 0 - - PHMDS Autism, Autistic behavior, Constipation, Chronic constipation, Behavioral abnormality, Delayed speech and language development, Severe expressive language delay, Language impairment SHANK3 SHANK3 1 1 Andreas Laner
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