Phenotypes associated with the disease Fanconi anemia complementation group J (OMIM:609054):
- Chromosomal breakage induced by crosslinking agents (HP:0003221): Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. Evidence: PCS. (PMID:16116424)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. (PMID:16116424)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:16116424)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 4/11. (PMID:16116424)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. (PMID:16116424)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: PCS. Frequency: 8/11. (PMID:16116424)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 3/11. (PMID:16116424)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. (PMID:16116424)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 3/11. (PMID:16116424)