- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 5/5. (PMID:21744492)
- Anisocoria (HP:0009916): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: PCS. Frequency: 2/5. (PMID:21744492)
- Achalasia (HP:0002571): A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. Evidence: PCS. Frequency: 3/5. (PMID:21744492)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:21744492)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/5. (PMID:21744492)
- 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. Frequency: 5/5. (PMID:21744492)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/5. (PMID:21744492)
- Abnormality of adrenal physiology (HP:0011733): A functional abnormality of the adrenal glands. Evidence: PCS. Frequency: 0/4. (PMID:21744492)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 5/5. (PMID:21744492)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/2. (PMID:21744492)
- 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: PCS. Frequency: 5/5. (PMID:21744492)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 5/5. (PMID:21744492)
These phenotypes are associated with the disease syndromic X-linked intellectual disability 17 (OMIM:300858).