| Phenotype details |
decreased foetal movements, PIH in mother; birth at term; height 91cm (-2.3 SD); weight 8kg (-4.8 SD); OFC 43cm (-4.3 SD); hypotonia in infancy; failure-to-thrive; developmental delay, 18m-unsupported sitting, 30m-supported walking, speech delay (can say 2-3 words); no nonverbal communication, understands simple commands like give me; profound developmental delay/ intellectual disability (8m at 4y); not able to perform basic activities of daily living, GMFCS level IV; speech regression; no progressive course; Aloof behaviour, abnormal hand movements and teeth grinding; no seizures; EEG normal; weakness, hypotonia, diminished reflexes, 18m-ataxia, broad based gait, dyskinetic movements; brachycephaly; sparse scalp hair, bitemporal narrowing, straight eyebrows, deep-set eyes, bilateral ptosis (right>left), epicanthic folds, triangular nose with full tip, hypoplastic nares, low-set columella, prominent medial maxillary incisors, long philtrum, full and tented upper lip, maxillary overbite, microretrognathia; hirsutism, sparse scalp hair; short index finger with absent nail and nail bed, sandal gap; bilateral hyperopia, +2.50, ptosis; mild hearing loss (below 30dB), post-ligual, bilateral sensorineural hearing loss; superior cerebellar vermian and pontine atrophy, along with cerebellar vermian hypoplasia and generalised cerebellar dysfoliation. The frontal lobe was underdeveloped with anterior callosal hypoplasia; no congenital heart defects; no renal problems; no GIT; no respiratory problems; feeding difficulties, can take semi-solids only |
