All individuals with variants in gene RAB11B

13 entries on 1 page. Showing entries 1 - 13.
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00147028 Pat1 PubMed: Lamers 2017 - F - Netherlands - - - - - ID height 152 cm (-1 SD), weight 47.8 kg (+1.5 SD), OFC 49 cm (-3 SD); severe/profound intellectual disability; no speech; 3y-walk; childhood hypotonia (HP:0001252); ataxia, broad-based gait; nystagmus (HP:0000639); mild hypermetropia; strabismus; delayed visual maturation; mild, non-progressive developmental hip dysplasia; tapering fingers; pes cavus; shortened achilles tendons; prominent steloideus ulnae; drooling; Simean crease; neonatal feeding difficulties 1 1 Johan den Dunnen
00147029 Pat2 PubMed: Lamers 2017 - F - Norway - - - - - ID height -2 SD, OFC -4 SD; intellectual disability; no speech; 3y-walk; no epilepsy; hypotonia (HP:0001252); no spasticity (-HP:0001257); no dystonia; reduced vision; developmental hip dysplasia right-sided, non-progressive; tapering fingers; 2 cm anisomelia; adducted thumbs; bilateral club foot; bilateral palsy nervus laryngeus recurrens, Diabetes Mellitus type 1, hydrocephalus 1 1 Johan den Dunnen
00147030 Pat3 PubMed: Lamers 2017 - M - Korea - - - - - ID height 112 cm (-1.9 SD), weight 34.1 kg (+1.7 SD), OFC 52 cm (+0.6 SD); intellectual disability; no speech; 6y-walk; epilepsy; hypotonia (HP:0001252); no spasticity (-HP:0001257); no dystonia; no refraction abnormality; no strabismus; strabismus; tapering fingers; acanthotic skin, epidermal nevus in face, neck, trunk; short neck; obstructive sleep apnea; cryptorchidism 1 1 Johan den Dunnen
00147031 Pat4 PubMed: Lamers 2017 - M - Netherlands - - - - - ID height 141 cm (- 1.5 SD), weight 34.5 kg (+0.7 SD), OFC 50 cm (-2.2 SD); severe/profound intellectual disability; no speech; epilepsy; hypotonia (HP:0001252); spasticity (HP:0001257); dystonia; ataxia, broad-based gait; no nystagmus (-HP:0000639); hypermetropia; no strabismus; no developmental hip dysplasia; tapering fingers; Simean crease 1 1 Johan den Dunnen
00147032 Pat5 PubMed: Lamers 2017 - F - United Kingdom (Great Britain) - - - - - ID height 121 cm (-1.5 SD), weight 25.7 kg (-0.5 SD), 48 cm (-3 SD); severe/profound intellectual disability; no speech; 8y-walk; single generalized seizure; no hypotonia (-HP:0001252); spasticity (HP:0001257); dystonia; broad-based gait; nystagmus (HP:0000639) horizontal; no refraction abnormality; strabismus; optic atrophy; developmental hip dysplasia requiring surgery; tapering fingers; long fingers; bruxism 1 1 Johan den Dunnen
00440328 GX0152.p1 PubMed: Wu 2020 - M - China Han - - - - NDD birth C-section, no premature birth, no neonatal feeding problems, no childhood feeding problems; ; height 99cm (-2SD), weight 14.1kg (-1SD), OFC 46cm (-3.31SD); autism spectrum disorder; intellectual disability; no delayed motor development; delayed speech; repetitive behavior; EEG abnormal; MRI brain abnormal; no regression; no sleep problems; no GI disturbances; hyperactive behavior; attentional problems; no anxiety; no aggressive behavior; no obsessive behavior; no febrile seizures infancy 1 1 Johan den Dunnen
00440329 Pat1 PubMed: Ahmad 2023 - M - - - - - - - NDD height 118 cm (-1.2SD), weight 21.5 kg (-0.8SD), OFC 52 cm (-0.44SD); no microcephaly (-HP:0000252); 18m-walk; 15m-first words, 5y6m-60 words, currently no words; severe global developmental delay (HP:0011344); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000729) (HP:0000708), frequent laughing, autistic behavior (hand flapping, impaired social interactions); no visual impairment (-HP:0000505); no optic nerve abnormalities (-HP:0000609); no strabismus (-HP:0000486); no seizures (-HP:0001250); no dystonia (-HP:0001332); no spasticity (-HP:0001257); hypotonia (HP:0001252); no limb hypertonia (-HP:0002509); no gait ataxia (-HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); 36w-premature birth; milk tooth set of teeth at an early stage (7-8m) 1 1 Johan den Dunnen
00440330 Pat2 PubMed: Ahmad 2023 - M - - - - - - - NDD height 85 cm (-4,36SD), weight 12.1 kg (-2,6SD), 2y9m-OFC 45 cm (-4.26SD), decreased growth velocity; microcephaly (HP:0000252); 3y1m-stand with support; significantly delayed speech, 2y-11m-babbling; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no behavioral abnormalities (-HP:0000729) (-HP:0000708); visual impairment (HP:0000505); optic nerve abnormalities (HP:0000609), hypoplasia of optic nerve; refraction abnormalities (HP:0001257), +2.00 bilaterally; strabismus (HP:0000486), fixes and follows; mild pallor of disc, tortuous vessels; no seizures (-HP:0001250); dystonia (HP:0001332); spasticity (HP:0001257), hip spasticity; hypotonia (HP:0001252), upper extremities; limb hypertonia (HP:0002509) legs; not walking; no nystagmus (-HP:0000639); yes; head lag to about 30 degrees, in prone lifts head to 45 degrees but does not tolerate positioning; no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); no ventriculomegaly (-HP:0002119); small cerebral cortex (HP:0002472), likely with diffusely enlargement of the subarachnoid spaces over the cerebral convexities; abnormal corpus callosum morphology (HP:0001273), dysgenesis, near agenesis; abnormal cerebellar vermis morphology (HP:0002334), bilateral cerebellar hypogenesis with inferior vermian hypoplasia; abnormal brainstem morphology (HP:0002363), small brainstem; absent septum pellucidum (septo-optic dysplasia), bilateral insular polymicrogyria ; short stature; square, occipital plagiocephaly; unilateral single transverse crease (simean crease); edematous at 7 months with metatarsus adductus; congenital extrophy of the bladder with epispadias; vesico-ureteral reflux; gastrostomy tube dependent; congenital inguinal hernia; mild bilateral hydronephrosis, small secundum atrial septal defect ; septo-optic dysplasia, hearing impairment (wears hearing aids for mild sensorineural hearing loss) 1 1 Johan den Dunnen
00440331 Pat3 PubMed: Ahmad 2023 - M - - - - - - - NDD weight 104.1 cm (-1.59SD), height 16.8kg (-1.02SD), OFC 46.4 cm (-4.12SD); microcephaly (HP:0000252); 21m-walk; delayed speech, 12m-first words, 50 words; moderate global developmental delay (HP:0011343; moderate intellectual disability (HP:0002342); on the Wechsler preschool and primary scale of intelligence, fourth edition, his non verbal index 50, fluid reasoning 59, and vocabulary acquisition index 45; behavioral abnormalities (HP:0000729) (HP:0000708), hyperkinesis, poor self control, needs constant supervision; visual impairment (HP:0000505); optic nerve abnormalities (HP:0000609), left optic nerve atrophy; refraction abnormalities (HP:0001257), anisometric hypermetropia and astigmatism of left eye, at risk for amblyopia of left eye, glasses prescribed 6/2022; no strabismus (-HP:0000486); no seizures (-HP:0001250); no dystonia (-HP:0001332); spasticity (HP:0001257), both ankles with tone 1+/4 (modified ashworth scale) and a few beats of clonus, not notable about the knee or hip; hypotonia (HP:0001252); limb hypertonia (HP:0002509); gait ataxia (HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); pes planus with inward rotation ankles, posture is looser today than previous exam, grips with toes while walking, right sided preference not as noticeable today; no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); first and fifth finger curvature, pes planus with inward rotation of the ankles, mild trigonocephaly and brachycephaly with occipital groove, eyes are deep set with epicanthus, ears are slightly cupped with thick helices, round nasal tip with wide columella, mouth broad, teeth are wide spaced; prefers to keep arms flexed and away from body; grips with toes while walking 1 1 Johan den Dunnen
00440332 ?;Pat4 PubMed: Jin 2020, PubMed: Ahmad 2023 - M - - - - - - - NDD height 170.2cm (-0.96SD), weight 70.3 kg (-0.05SD); no microcephaly (-HP:0000252); 11m-walk; 10m-first words, difficulty enunciating R's 7y-visited speech therapist; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); no behavioral abnormalities (-HP:0000729) (-HP:0000708); no visual impairment (-HP:0000505); no optic nerve abnormalities (-HP:0000609); no refraction abnormalities (-HP:0001257); no strabismus (-HP:0000486); seizures (HP:0001250), 20y-self-resolved; no dystonia (-HP:0001332); no spasticity (-HP:0001257); no hypotonia (-HP:0001252); limb hypertonia (HP:0002509), very mild difficulty handwriting (very light/low pressure), required physical therapy; no gait ataxia (-HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); EEG abnormalities (HP:0002353); ventriculomegaly (HP:0002119), hydrocephalus; no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); congenital hydrocephalus; 1 1 Johan den Dunnen
00440333 Pat5 PubMed: Ahmad 2023 - F - - - - - - - NDD height 96.5cm (-1.61SD), weight 22.4kg (+2.07SD), OFC42cm (-8.15SD); microcephaly (HP:0000252); not walking; few words; severe global developmental delay (HP:0011344); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000729) (HP:0000708), autistic behavior, repetitive behaviors; visual impairment (HP:0000505), reduced vision; no optic nerve abnormalities (-HP:0000609); no refraction abnormalities (-HP:0001257); strabismus (HP:0000486); no seizures (-HP:0001250); no dystonia (-HP:0001332); no spasticity (-HP:0001257); hypotonia (HP:0001252); no limb hypertonia (-HP:0002509); no gait ataxia (-HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); small cerebral cortex (HP:0002472); abnormal corpus callosum morphology (HP:0001273); abnormal cerebellar vermis morphology (HP:0002334); abnormal brainstem morphology (HP:0002363); diffuse severe callosum thinning, mild brainstem thinning, and mild inferior cerebellar vermis hypoplasia, cerebral white matter volume loss with scattered areas of delayed myelination ; microcephaly 1 1 Johan den Dunnen
00440334 Pat6 PubMed: Ahmad 2023 - M - - - - - - - NDD 14m-height 79cm (+0.01SD), 17m-weight 11.9kg (+0.45SD), 14m-OFC 2.4cm (-4.4SD), 5m-0SD; microcephaly (HP:0000252); 21m-not walking; 21m-no speech; severe global developmental delay (HP:0011344); severe intellectual disability (HP:0010864); no behavioral abnormalities (-HP:0000729) (-HP:0000708); visual impairment (HP:0000505); optic nerve abnormalities (HP:0000609), optic nerve hypoplasia with mild pallor of optic discs; refraction abnormalities (HP:0001257), mild myopia; strabismus (HP:0000486), intermittent esotropia; congenital nystagmus, bilateral ptosis; no seizures (-HP:0001250); no dystonia (-HP:0001332); spasticity (HP:0001257); hypotonia (HP:0001252); no limb hypertonia (-HP:0002509); no gait ataxia (-HP:0002066), not ambulatory; congenital nystagmus (HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); clubfoot lefts; no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); small cerebral cortex (HP:0002472); abnormal corpus callosum morphology (HP:0001273), thinning; normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); absent anterior limb of internal capsule; small for gestational age, congenital microcephaly; prominent nasal root, large appearing lowset ears, thin upper lip, bilateral vertical talus deformity, lymphedema of both legs, mild laryngomalacia, positional plagiocephaly 1 1 Johan den Dunnen
00440335 Pat7 PubMed: Ahmad 2023 - F - - - - - - - NDD height 112 cm (+0.21SD), weight 18.2 kg (-0.25SD), OFC 50 cm (-0.47SD); no microcephaly (-HP:0000252); 68m-walk; delayed speech, difficulties of pronounciation, started speech therapy; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); non-verbal IQ103 (SON-R) at last visit; behavioral abnormalities (HP:0000729) (HP:0000708); no visual impairment (-HP:0000505); no optic nerve abnormalities (-HP:0000609); no strabismus (-HP:0000486); seizures (HP:0001250), tonic and myoclonic, currently seizure free; no dystonia (-HP:0001332); no spasticity (-HP:0001257); hypotonia (HP:0001252); no limb hypertonia (-HP:0002509); no gait ataxia (-HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); EEG abnormalities (HP:0002353), no inter-ictal, yes ictal; no ventriculomegaly (-HP:0002119); no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); ileo-coecal invagination during infancy; suspicion of von-Willebrand-Jürgens-Syndrome 1 1 Johan den Dunnen
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