| Phenotype details |
neonatal jaundice; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); deeply-set eye (HP:0000490); sagging cheeks; low-set ears (HP:0000369); protruding ear (HP:0000411); long face (HP:0000276); high arched palate (high palate HP:0000218); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); mild ventriculomegaly (HP:0002119); cerebellar atrophy; tremor (HP:0001337); generalized hypotonia (HP:0001290), postural; low deep tendon reflexes (reduced tendon reflexes) HP:0001315); non-ambulatory; diplegia (spastic diplegia HP:0001264); thoracic case deformities; spasticity (HP:0001257); kyphosis (HP:0002808); scoliosis (HP:0002650); autistic behaviors (HP:0000729); intellectual disability (HP:0001249); 8y-dies from infection, cardiopulmonary insufficiency; not present -HP:0000486, -HP:0000219, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000343, -HP:0000365, -HP:0000389, -HP:0000414, -HP:0000470, -HP:0000496, -HP:0000545, -HP:0000579, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0000938, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001251, -HP:0001511, -HP:0002079, -HP:0005469, -HP:0007375, -HP:0007483, -HP:0008070, -HP:0008472, -HP:0009748, -HP:0011927, -HP:0100797; umbilical cord entrapment (abnormality of the umbilical cord HP:0010881), birth 38w, caesarian section (HP:0011410), weight 2830 (10th), height 49 (25th), OFC 34 (25th) |
