- Hypothalamic hamartoma (HP:0002444): The presence of a hamartoma of the hypothalamus. Evidence: PCS. Frequency: 2/2. (PMID:30497210)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: IEA. (OMIM:241800)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:30497210)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:241800)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: IEA. (OMIM:241800)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: IEA. (OMIM:241800)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: IEA. (OMIM:241800)
- Focal emotional seizure with crying (HP:0010820): Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: IEA. (OMIM:241800)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:241800)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:241800)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: IEA. (OMIM:241800)
- Short ribs (HP:0000773): Reduced rib length. Evidence: IEA. (OMIM:241800)
- Anterior hypopituitarism (HP:0000830): A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. Evidence: IEA. (OMIM:241800)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: IEA. (OMIM:241800)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: IEA. (OMIM:241800)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:241800)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:241800)
- Sleep terror (HP:0030765): Autonomic arousal, screaming, sweating, crying, outbursts during sleep, usually no recollection at the individual level; typically observed by others. Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: IEA. (OMIM:241800)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:241800)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: PCS. Frequency: 1/2. (PMID:30497210)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:241800)
- 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:30497210)
- Glioma (HP:0009733): The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). Evidence: IEA. (OMIM:241800)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: 2/2. (PMID:30497210)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:241800)
These phenotypes are associated with the disease congenital hypothalamic hamartoma syndrome (OMIM:241800).