All individuals with variants in gene CCDC132

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00384985 Pat1 PubMed: Schneeberger 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no India India-S - - - - NDD see paper; ...; brith 40w, weight 2700g (Z-2.1); weight 5.5 kg (Z-6.34), length 75cm (Z-3.84), OFC 37cm (Z-10.35); no perinatal complications; (HP:0001263) severe global developmental delay, (HP:0001249) intellectual disability, no developmental milestones, cannot recognize parents; (HP:0001270) motor delay, no head control; (HP:0000750) absent speech; (HP:0001250) 6m-seizures; (HP:0001257) spasticity, opisthotonos; (HP:0000737) irritability; (-HP:0002487) no hyperkinetic movements; (HP:0012443) MRI brain abnormality, 5m-hypoplastic corpus callosum; (HP:0001396) cholestasis, neonatal cholestasis; (HP:0000365) hearing impairment, auditory pathway dysfunction (inconsistent waves both ears at 85 db and 105 db) ; (HP:0000505) visual impairment, R -20.25 diopterst, L 17.00 diopters; (HP:0011968) feeding difficulties, Semisolids taken; (HP:0000271) abnormality face, squared nasal tip; severe failure to thrive, slate-grey nevi on back, tiny anterior fontanel 1 1 Johan den Dunnen
00384986 Pat2 PubMed: Schneeberger 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Austria - - - - - NDD see paper; ...; brith 39w, weight 3220g (Z-0.74), length 51cm (Z-0.50), OFC 33cm (Z-1.87); weight 11.2 kg (Z-1.16), length 81cm (Z-2.65), OFC 40.6cm (Z-7.65) ; nuchal cord, poor adaptation, neonatal intensive care for 4 days; (HP:0001263) severe global developmental delay, (HP:0001249) intellectual disability, no developmental milestones, very limited social interaction; (HP:0001270) motor delay, primary developmental delay; 5m-able to grasp, turn to side, never achieved independent sitting, 22m-loss of skills; (HP:0000750) absent speech; (HP:0001250) 25m-seizures, 3-5 generalized tonic seizures per day; (-HP:0001257) no spasticity; (HP:0000737) irritability; (HP:0002487) hyperkinetic movements, multifocal twitching movements of hands and feet, at first restricted to bouts of irritability; 22m-abnormal movements persistently present after crisis; (HP:0012443) MRI brain abnormality, 12m-hypoplastic corpus callosum, 23m-hypoplastic corpus callosum with supra- and infratentorial brain atrophy; (HP:0001396) cholestasis, transient neonatal conjugated hyperbilirubinemia with normal serum gamma-glutamyl transferase activity; (-HP:0000365) no hearing impairment, normal newborn screening, alert to sounds; (HP:0000505) visual impairment, convergent strabismus, poor eye contact, limited pursuit, bilateral maculopathy, visual impairment (-3 diopters bilaterally); (HP:0011968) feeding difficulties, 6m-asogastric tube; (-HP:0000271) no abnormality face; recurrent episodes of autonomic dysfunction, dehydration, resuscitation 1 1 Johan den Dunnen
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