Phenotypes associated with the disease achondrogenesis type IB (OMIM:600972):
- Absent or minimally ossified vertebral bodies (HP:0004599). Evidence: IEA. (OMIM:600972)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: IEA. (OMIM:600972)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:600972)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: TAS. (OMIM:600972)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. (OMIM:600972)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:600972)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: IEA. (OMIM:600972)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:600972)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (OMIM:600972)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:600972)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: IEA. (OMIM:600972)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: IEA. (OMIM:600972)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: IEA. (OMIM:600972)
- 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:8528239)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. (OMIM:600972)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: IEA. (OMIM:600972)
- Neonatal short-limb short stature (HP:0008921): A type of short-limbed dwarfism that is manifest beginning in the neonatal period. Evidence: IEA. (OMIM:600972)
- Short ribs (HP:0000773): Reduced rib length. Evidence: IEA. (OMIM:600972)
- Breech presentation (HP:0001623): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: IEA. (OMIM:600972)