Disease #05491 (IDDFBA (intellectual developmental disorder, dysmorphic facies, behavioral abnormalities (IDDFBA)), OMIM:618089)

Official abbreviation IDDFBA
Name intellectual developmental disorder, dysmorphic facies, behavioral abnormalities (IDDFBA)
OMIM ID 618089
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 1
Associated with 1 gene FBXO11
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00295938 - - - F - - - - 0 - - IDDFBA Cleft palate (HP:0000175); Microcephaly (HP:0000252); Telecanthus (HP:0000506); Intellectual disability (HP:0001249); Supernumerary nipple (HP:0002558) - FBXO11 1 1 IMGAG
00362014 177941 - - M ? Germany - - 0 - - IDDFBA (+) Microcephaly,(+) Abnormality of the face,(+) Abnormality of the pinna,(+) Macrotia,(+) Abnormal eyelid morphology,(+) Muscular hypotonia,(+) Global developmental delay FBXO11 FBXO11 1 1 Andreas Laner
00372578 - - - F - - - - - - - IDDFBA, IDDSADF, NDD , Neurodevelopmental delay (HP:0012758), Unilateral ptosis (HP:0007687), Strabismus (HP:0000486), Intellectual disability (HP:0001249), Behavioral abnormality (HP:0000708), Broad forehead (HP:0000337), Sparse lateral eyebrow (HP:0005338), Epicanthus (HP:0000286), Low-set, posteriorly rotated ears (HP:0000368), Smooth philtrum (HP:0000319), Long philtrum (HP:0000343), Thin vermilion border (HP:0000233), High palate (HP:0000218), Dental malocclusion (HP:0000689), Microretrognathia (HP:0000308), Short metacarpal (HP:0010049), Clinodactyly of the 5th finger (HP:0004209), Lumbar hyperlordosis (HP:0002938), Brachycephaly (HP:0000248) - ZFHX4 1 1 Monia Ginevrino
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