Disease #01941 (deficiency, biotinidase, OMIM:253260)

Official abbreviation -
Name deficiency, biotinidase
OMIM ID 253260
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 189
Phenotype entries for this disease 87
Associated with 1 gene BTD
Associated tissues -
Disease features biotinidase deficiency, a form of multiple carboxylase deficiency
Remarks autosomal recessive, caused by homozygous or compound heterozygous variants


Individuals

189 entries on 2 pages. Showing entries 1 - 100.
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00105944 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 43% BTD BTD 2 1 Jasper Saris
00105945 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 54% BTD BTD 1 1 Jasper Saris
00105946 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 80% BTD BTD 2 1 Jasper Saris
00105947 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 109% BTD BTD 1 1 Jasper Saris
00105948 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 84% BTD BTD 1 1 Jasper Saris
00105949 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 106% BTD BTD 1 1 Jasper Saris
00105950 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 56% BTD BTD 2 1 Jasper Saris
00105951 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 52% BTD BTD 1 1 Jasper Saris
00105952 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 44% BTD BTD 2 1 Jasper Saris
00105953 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 54% BTD BTD 2 1 Jasper Saris
00105954 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 61% BTD BTD 2 1 Jasper Saris
00105955 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 58% BTD BTD 2 1 Jasper Saris
00105956 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 87% BTD BTD 1 1 Jasper Saris
00105957 - - - - - - - - 0 - - deficiency, biotinidase enzyme activity: 56% BTD BTD 1 1 Jasper Saris
00105958 - PubMed: Wiltink 2016 - - - - - - 0 - - deficiency, biotinidase enzyme activity: 17% BTD BTD 1 1 Jasper Saris
00105959 - PubMed: Wiltink 2016 - - - - - - 0 - - deficiency, biotinidase enzyme activity: 26% BTD BTD 2 1 Jasper Saris
00105960 - PubMed: Wiltink 2016 - - - - - - 0 - - deficiency, biotinidase enzyme activity: 29% BTD BTD 3 1 Jasper Saris
00105961 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105962 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105963 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105964 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105966 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105967 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105968 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105969 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105970 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105971 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105972 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105973 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105974 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105975 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105976 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105977 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105978 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105979 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105980 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105981 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105982 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105983 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105984 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00105985 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105986 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00105987 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105988 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105989 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105990 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105991 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105992 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105993 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105994 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105995 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105996 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105997 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105998 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00105999 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106000 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106001 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00106002 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106003 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106004 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106005 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106006 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106007 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106008 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00106009 09396567-Pat41 PubMed: Pomponio 1997 - ? yes Italy - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106010 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106011 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106012 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106013 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106014 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106015 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106016 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106017 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106018 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106019 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106020 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106021 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106022 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106023 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106024 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00106025 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106026 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106027 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106028 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106029 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106030 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106031 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106032 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106033 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106034 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106035 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00106036 - - - - - - - - 0 - - deficiency, biotinidase multiple carboxylase deficiency BTD BTD 1 1 Jasper Saris
00106037 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106038 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106039 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106040 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106041 - - - - - - - - 0 - - deficiency, biotinidase biotinidase deficiency, partial BTD BTD 1 1 Jasper Saris
00106042 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106043 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
00106044 - - - - - - - - 0 - - deficiency, biotinidase - BTD BTD 1 1 Jasper Saris
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