| Phenotype details |
low birth weight (small for gestational age HP:0001518); intrauterine growth retardation (HP:0001511); postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); N/A; prominent supraorbital ridges (HP:0000336); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); long face (HP:0000276); high arched palate (high palate HP:0000218); microretrognathia (HP:0000308); broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); synophrys (HP:0000664); sparse hair (HP:0008070); depigmentation (depigmentation/hyperpigmentation of skin HP:0007483); aplasia cutis congenita (HP:0001057); hirsutism (HP:0001007); toenail dysplasia (HP:0100797),f ragile nails (HP:0001808); strabismus (HP:0000486); pseudoalbinism; constipation (HP:0002019); microcephaly (HP:0000252); hypoplasia of the corpus callosum (HP:0002079), dffuse; deficiency of the falx cerebri; generalized hypotonia (HP:0001290, axial), infantile axial hypotonia (HP:0009062); N/A; N/A; N/A; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); joint hypermobility (HP:0001382); thoracic case deformities; spasticity (HP:0001257); pectus excavatum (HP:0000767); scoliosis (HP:0002650); short neck (HP:0000470); atrial septal defect (HP:0001631), aortic coarctation (HP:0001680), pulmonary hypertension (HP:0002092).; cryptorchidism (HP:0000028); intellectual disability (HP:0001249); 3y-dies from respiratory failure (HP:0004887) caused by pulmonary infection; not present -HP:0000219, -HP:0000307, -HP:0000316, -HP:0000365, -HP:0000389, -HP:0000411, -HP:0000490, -HP:0000494, -HP:0000639, -HP:0000729, -HP:0000739, -HP:0000960, -HP:0000964, -HP:0001250, -HP:0001320, -HP:0001337, -HP:0002020, -HP:0002119, -HP:0002808, -HP:0004696, -HP:0005469, -HP:0006979, -HP:0007018, -HP:0007375, -HP:0009748, -HP:0011220, -HP:0011927; increased nuchal translucency (HP:0010880), 37w, weight 1690g (<3rd), height 45 (10-25th), OFC 28 (<3rd) |
