| Phenotype details |
small for gestational age; short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; no short columella; downslanting corners mouth; no cataracts; strabismus; no cleft palate; micrognathia; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no immunodeficiency; no tumor; no leukemia; no obesity; cachexia, no walking, no speech at age 10 |
