Table 1.
Genotype–phenotype correlation for ASPM and CTN genes.
| Patient’s Clinical Findings |
ASPM Phenotype * |
CTNS Phenotype * |
|---|---|---|
| Growth | ||
| Birth length less than 3rd percentile (HP:0003561) | + | + |
| Failure to thrive in infancy (HP:0001531) | na | + |
| Neuromotor development and neurological features | ||
| Motor delay (HP:0001270) | + | na |
| Delayed speech and language development (HP:0000750) | + | na |
| Intellectual disability, severe (HP:0010864) | + | na |
| Hyperactivity (HP:0000752) | - | na |
| Attention deficit hyperactivity disorder (HP:0007018) | - | na |
| Myopathy (HP:0003198) | na | - |
| Seizure (HP:0001250) | - | na |
| Progressive neurologic deterioration (HP:0002344) | na | + |
| Central Nervous System abnormalities | ||
| Aplasia/Hypoplasia of the corpus callosum (HP:0007370) | + | na |
| Small cerebral cortex (HP:0002472) | + | na |
| Lissencephaly (HP:0001339) | + | na |
| Hypoplasia of the pons (HP:0012110) | - | na |
| Hypoplasia of the frontal lobes (HP:0007333) | + | na |
| Aplasia/Hypoplasia of the cerebellum (HP:00007360) | + | na |
| Ventriculomegaly (HP:0002119) | - | na |
| Cerebral atrophy (HP:0002059) | na | + |
| Head and neck | ||
| Primary microcephaly (HP:0011451) | + | na |
| Sloping forehead (HP:0000340) | + | + |
| Narrow forehead (HP:0000341) | - | na |
| Proptosis (HP:0000520) | - | na |
| Highly arched eyebrows (HP:0002553) | - | na |
| Ears | ||
| Hearing impairment (HP:0000365) | - | na |
| Eyes | ||
| Photophobia (HP:0000613) | na | + |
| Peripheral retinal degeneration (HP:0007769) | na | + |
| Visual loss (HP:0000572) | na | + |
| Corneal crystals (HP:0000531) | na | + |
| Voice | ||
| Weak voice (HP:0001621) | na | - |
| Skeletal | ||
| Delayed skeletal maturation (HP:0002750) | na | + |
| Genu valgum (HP:0002857) | na | + |
| Digestive system | ||
| Hepatomegaly (HP:0002240) | na | + |
| Urinary system | ||
| Renal Fanconi syndrome (HP:0001994) | na | + |
| Stage 5 chronic kidney disease (HP:0003774) | na | + |
| Nephrolithiasis (HP:00000787) | na | nr |
| Hypophosphatemic rickets (HP:0004912) | na | + |
| Episodic metabolic acidosis (HP:0004911) | na | + |
| Polyuria (HP:0000103) | na | + |
| Generalized aminoaciduria (HP:0002909) | na | + |
| Renal Hypophosphatemia (HP:0008732) | na | nr |
| Hyponatremia (HP:00029202) | na | + |
| Microscopic hematuria (HP:0002907) | na | + |
| Endocrine System | ||
| Primary hypothyroidism (HP:0000832) | na | + |
| Exocrine pancreatic insufficiency (HP:0001738) | na | + |