Phenotypes associated with the disease desmosterolosis (OMIM:602398):
- Elevated circulating desmosterol concentration (HP:0034937): Concentration of desmosterol in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 10/10. (PMID:29175559)
- 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: 1/10. (PMID:29175559)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 6/9. (PMID:29175559)
- 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: 4/4. (PMID:29175559)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 5/8. (PMID:29175559)
- 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: TAS. (OMIM:602398)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 2/10. (PMID:29175559)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 6/9. (PMID:29175559)
- 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: TAS. (OMIM:602398)
- Abnormal circulating cholesterol concentration (HP:0003107): Any deviation from the normal concentration of cholesterol in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:11519011)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 1/2. (PMID:12457401)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 1/2. (PMID:9450875)
- 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: PCS. Frequency: 4/10. (PMID:29175559)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 4/10. (PMID:29175559)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 5/10. (PMID:29175559)
- 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: 9/9. (PMID:29175559)
- 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:11519011)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: TAS. (OMIM:602398)
- Gingival fibromatosis (HP:0000169): The presence of fibrosis of the gingiva. Evidence: PCS. Frequency: 1/2. (PMID:9450875)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 7/7. (PMID:29175559)
- 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: 4/10. (PMID:29175559)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/2. (PMID:12457401)
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 2/10. (PMID:29175559)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 2/5. (PMID:29175559)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. (OMIM:602398)
- Ambiguous genitalia, female (HP:0000061): Ambiguous genitalia in an individual with XX genetic gender. Evidence: PCS. Frequency: 1/2. (PMID:9450875)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: PCS. Frequency: 10/10. (PMID:29175559)
- Alveolar ridge overgrowth (HP:0009085): Increased width of the alveolar ridges. Evidence: PCS. Frequency: 1/2. (PMID:9450875)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 8/9. (PMID:29175559)
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: PCS. Frequency: 1/10. (PMID:29175559)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 9/10. (PMID:29175559)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 1/2. (PMID:12457401)
- 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: PCS. Frequency: 1/10. (PMID:29175559)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 1/5. (PMID:29175559)
- Generalized osteosclerosis (HP:0005789): An abnormal increase of bone mineral density with generalized involvement of the skeleton. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:9450875)
- Ambiguous genitalia, male (HP:0000033): Ambiguous genitalia in an individual with XY genetic gender. Evidence: PCS. Frequency: 1/2. (PMID:12457401)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: PCS. Frequency: 4/6. (PMID:29175559)
- Distal arthrogryposis (HP:0005684): An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. Evidence: PCS. Frequency: 5/6. (PMID:29175559)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 2/7. (PMID:29175559)
- Hypoplastic nasal bridge (HP:0005281). Evidence: PCS. Frequency: 1/2. (PMID:9450875)
- Total anomalous pulmonary venous return (HP:0005160): Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. Evidence: PCS. Frequency: 1/6. (PMID:29175559)
- Aplasia/Hypoplasia of the corpus callosum (HP:0007370): Absence or underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 2/2. (PMID:29175559)
- Reduced cerebral white matter volume (HP:0034295): An abnormally low volume of the white matter of the brain. Evidence: PCS. Frequency: 8/9. (PMID:29175559)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 1/2. (PMID:12457401)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/10. (PMID:29175559)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. (OMIM:602398)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 2/10. (PMID:29175559)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/9. (PMID:29175559)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 9/10. (PMID:29175559)