Phenotypes associated with the disease short stature and microcephaly with genital anomalies (OMIM:618702, an entry in Online Mendelian Inheritance in Man):
- Severe short stature (HP:0003510, a Human Phenotype Ontology term): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 2/2. (PMID:29228025)
- Narrow face (HP:0000275, a Human Phenotype Ontology term): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Dysharmonic delayed bone age (HP:0005832, a Human Phenotype Ontology term): A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. Evidence: PCS. Frequency: 2/2. (PMID:29228025)
- Decreased body weight (HP:0004325, a Human Phenotype Ontology term): Abnormally low body weight. Evidence: PCS. Frequency: 2/2. (PMID:29228025)
- Micropenis (HP:0000054, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:29228025)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. Frequency: 2/2. (PMID:29228025)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 2/2. (PMID:29228025)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Hypermetropia (HP:0000540, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 2/2. (PMID:29228025)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Narrow mouth (HP:0000160, a Human Phenotype Ontology term): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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:29228025)
- Gastroesophageal reflux (HP:0002020, a Human Phenotype Ontology term): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- External genital hypoplasia (HP:0003241, a Human Phenotype Ontology term): Underdevelopment of part or all of the external reproductive organs. Evidence: PCS. (PMID:29228025)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:29228025)
- Hypoplastic fingernail (HP:0001804, a Human Phenotype Ontology term): Underdevelopment of a fingernail. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Delayed thelarche (HP:0025515, a Human Phenotype Ontology term): Later than normal development of the breasts. Evidence: PCS. Frequency: 1/1. (PMID:29228025)
- Prominent nose (HP:0000448, a Human Phenotype Ontology term): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:29228025)
- Genu valgum (HP:0002857, a Human Phenotype Ontology term): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Delayed puberty (HP:0000823, a Human Phenotype Ontology term): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. (PMID:29228025)
- Convex nasal ridge (HP:0000444, a Human Phenotype Ontology term): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 1/2. (PMID:29228025)
- Phimosis (HP:0001741, a Human Phenotype Ontology term): The male foreskin cannot be fully retracted from the head of the penis. Evidence: PCS. Frequency: 1/1. (PMID:29228025)