Delayed Cranial Ossification due to CBFB Haploinsufficiency
Deletion 13q Syndrome, Partial
Distal Trisomy 10q Syndrome
Duplication 4p Syndrome
Edinburgh Malformation Syndrome
Emanuel Syndrome
holoprosencephaly +
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type
Isodicentric Chromosome 15 Syndrome
mosaic variegated aneuploidy syndrome +
Pallister Killian Syndrome
Partial Duplication 15q Syndrome
Partial Trisomy 3q Syndrome
Prader-Willi syndrome +
Recombinant Chromosome 8 Syndrome
Ring Chromosome 4 Syndrome
ring chromosome syndrome +
Schmid-Fraccaro Syndrome
Sex Chromosome Disorders +
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).