| Phenotype details |
poor feedings requiring NG tube (Nasogastric tube feeding in infancy, HP:0011470); postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); (short) downslanted palpebral fissures (HP:0000494); prominent forehead (HP:0011220); smooth philtrum HP:0000319; low-set ears (HP:0000369), p osteriorly rotated (HP:0000358); protruding ear (HP:0000411); high arched palate (high palate HP:0000218); microretrognathia (HP:0000308); broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); aplasia cutis congenita (HP:0001057); hearing impairment (HP:0000365), ensorineural H(P:0000407); chromic otitis media (HP:0000389); strabismus (HP:0000486); myopia (HP:0000545); nystagmus (HP:0000639); oculomotor dysfuntion (abnormality of eye movement HP:0000496); constipation (HP:0002019); microcephaly (HP:0000252); mild ventriculomegaly (HP:0002119); hypoplasia of the corpus callosum (HP:0002079), anterior>posterior; severehypoplasia of the cerebellar vermis (HP:0001320); deficiency of the falx cerebri; generalized hypotonia (HP:0001290); gait abnormalities (gait disturbance HP:0001288); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); talipes cavus equinovarus (HP:0004696); short digit (HP:0011927); atrial septum defect (HP:0001631), aortic coarctation (HP:0001680); cryptorchidism (HP:0000028), vesicoureteral reflux (HP:0000076); autistic behaviors (HP:0000729); intellectual disability (HP:0001249); not present -HP:0000219, -HP:0000276, -HP:0000307, -HP:0000316, -HP:0000336, -HP:0000470, -HP:0000490, -HP:0000579, -HP:0000739, -HP:0000938, -HP:0000960, -HP:0000964, -HP:0001007, -HP:0001250, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001337, -HP:0001382, -HP:0001511, -HP:0002020, -HP:0002141, -HP:0002650, -HP:0002808, -HP:0006979, -HP:0007018, -HP:0007375, -HP:0007483, -HP:0009748, -HP:0100797; full term, caesarian section (HP:0011410), weight 2340, height 47 |
