All individuals with variants in gene AP3B2

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00289428 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Nystagmus (HP:0000639); Stereotypy (HP:0000733); Muscular hypotonia (HP:0001252); Polyhydramnios (HP:0001561) 1 1 IMGAG
00289429 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Absent speech (HP:0001344); Muscular hypotonia (HP:0001252); Seizures (HP:0001250); Brain atrophy (HP:0012444) 1 1 IMGAG
00361523 16DG0295 PubMed: Anazi 2017 simplex case F - Saudi Arabia - - - - - ID not syndromic; global developmental delay, seizures, microcephaly 1 1 Johan den Dunnen
00440459 PED2645.1 PubMed: Nambot 2018 - - - France - - - - - ? - 2 1 Johan den Dunnen
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