Phenotypes for disease #03390 (BBIS (Beaulieu-Boycott-Innes syndrome (BBIS)), OMIM:613680)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000179269 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) - - Familial, autosomal recessive - 09y - - - MedGenome_db 00238974
0000179836 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 Beaulieu-Boycott-Innes syndrome BBIS Familial, autosomal recessive - - - - - Johan den Dunnen 00239622
0000179837 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 Beaulieu-Boycott-Innes syndrome BBIS Familial, autosomal recessive - - - - - Johan den Dunnen 00239623
0000179838 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 Beaulieu-Boycott-Innes syndrome BBIS Familial, autosomal recessive - - - - - Johan den Dunnen 00239624
0000179840 see paper; ... Beaulieu-Boycott-Innes syndrome BBIS Familial, autosomal recessive - - - - - Johan den Dunnen 00239626
0000179841 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 Beaulieu-Boycott-Innes syndrome BBIS Familial, autosomal recessive 03y06m - - - - Johan den Dunnen 00239627
0000179842 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 Beaulieu-Boycott-Innes syndrome BBIS Familial, autosomal recessive 05y04m - - - - Johan den Dunnen 00239628
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