Disease #03390 (BBIS (Beaulieu-Boycott-Innes syndrome (BBIS)), OMIM:613680)

Official abbreviation BBIS
Name Beaulieu-Boycott-Innes syndrome (BBIS)
OMIM ID 613680
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene THOC6
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +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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00238974 Patient_1 - 2 affected male from non-consanguineous marriage; unaffected heterozygous carrier parents M no India South Asian - - - - BBIS global developmental delay (HP:0001263), Facial Dysmorphism (HP:0001999), Synophrys (HP:0000664), deep-set eyes (HP:0000490), short palpebral fissure (HP:0012745), epicanthic folds (HP:0000286), plagiocephaly (HP:0001357), Cryptorchidism (HP:0000028), Sprengel anomaly (HP:0000912), Failure to thrive (HP:0001508) - THOC6 3 2 MedGenome_db
00239622 - PubMed: Casey 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Ireland - - - - - BBIS low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, severe intellectual disability, renal anomalies, language delay, dental malocclusion and caries, delay in early fine and gross motor skills, no gynaecological issues, cardiac anomalies THOC6 THOC6 3 1 Johan den Dunnen
00239623 Fam1 PubMed: Beaulieu 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States Hutterite - - - - BBIS low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, renal anomalies, language delay, dental malocclusion and caries THOC6 THOC6 1 2 Johan den Dunnen
00239624 Fam2 PubMed: Beaulieu 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States Hutterite - - - - BBIS low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, renal anomalies, language delay, dental malocclusion and caries THOC6 THOC6 1 2 Johan den Dunnen
00239626 - PubMed: Accogli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - BBIS see paper; ... THOC6 THOC6 2 1 Johan den Dunnen
00239627 Pat1 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - European - - - - BBIS mild to moderate microcephaly, facial dysmorphy, tall forehead, deep set eyes, long nose, epicanthus, low hanging columnella, flat philtrum, retrognathia, severe intellectual disability, speech delay, brain anomalies, no ventricular dilatation, corpus callosum dysgenesis, no cardiac anomalies, no renal anomalies, micropenis, hypospadias THOC6 PSPN, THOC6 4 1 Johan den Dunnen
00239628 Pat2 PubMed: Mattioli 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - European, north - - - - BBIS mild to moderate microcephaly, facial dysmorphy, tall forehead, deep set eyes, long nose, epicanthus, low hanging columnella, no flat philtrum, retrognathia, dental problems (malocclusion/caries), severe intellectual disability, speech delay, brain anomalies, ventricular dilatation (hydrocephalus), corpus callosum dysgenesis, cardiac anomalies, no renal anomalies, no genitourinary anomalies THOC6 THOC6 4 1 Johan den Dunnen
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