Phenotypes associated with the disease developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (OMIM:616901):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Scaphocephaly (HP:0030799): Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- 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. (PMID:26220823)
- Trigonocephaly (HP:0000243): Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. Evidence: PCS. (PMID:26220823)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- Sagittal craniosynostosis (HP:0004442): A kind of craniosynostosis affecting the sagittal suture. Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 3/8. (PMID:26220823)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Dandy-Walker malformation (HP:0001305): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: PCS. Frequency: 4/6. (PMID:26220823)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: PCS. Frequency: 3/8. (PMID:26220823)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- 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: 8/8. (PMID:26220823)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 4/6. (PMID:26220823)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- 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: 8/8. (PMID:26220823)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/8. (PMID:26220823)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Death in childhood (HP:0003819): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 2/8. (PMID:26220823)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- 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:26220823)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 8/8. (PMID:26220823)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 8/8. (PMID:26220823)