- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: IEA. (OMIM:225250)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. (OMIM:225250)
- Thyroid agenesis (HP:0008191): The congenital absence of the thyroid gland. Evidence: PCS. Frequency: 1/4. (PMID:16418214)
- Ectopic thyroid (HP:0100028): Mislocalised thyroid gland. Evidence: PCS. Frequency: 3/4. (PMID:16418214)
- Decreased circulating free T4 concentration (HP:0033078): A reduced concentration of free thyroxine (fT4) in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:16418214)
- Decreased circulating free T3 (HP:0032210): A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: PCS. Frequency: 1/4. (PMID:16418214)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:16418214)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 4/4. (PMID:16418214)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: IEA. (OMIM:225250)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:225250)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 1/4. (PMID:16418214)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:16418214)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:225250)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/4. (PMID:16418214)
These phenotypes are associated with the disease hypothyroidism, congenital, nongoitrous, 5 (OMIM:225250).