All individuals with variants in gene ACBD6

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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00443353 Fam1Pat1 PubMed: Kaiyrzhanov 2023 family, 3 affected, unaffected heterozygous parents (1st cousins) F yes Iran Persia - - - - NDD birth at term, weight 3.5 kg (56th), ; weight 70 kg (78th), height 165 cm (61rd), OFC 54 cm (38th); severe global developmental delay/intellectual disability; single words; 1y-sit; 4y6m-walk; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; Clumsy gait; no tics, no tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; postural instability; no urinary incontinence; 35y-suspected complex, partial seizures; EEG right spike wake discharge; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; prognathia; Premature aging, Regression starting at the age 30 years; MRI brain Hypoplasia of posterior corpus callosum, agenesis of the anterior commissure, short midbrain, cerebellar vermis hypoplasia, multiple ring-enhancing abscesses with surrounding vasogenic edema, ventriculitis and hydrocephalus 1 3 Johan den Dunnen
00443354 Fam1Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Iran Persia - - - - NDD birth at term, weight 3.1 kg (23rd), OFC 36 cm (52); weight 75 kg (64th), height 172 cm (26th), OFC 56 cm (73rd); severe global developmental delay/intellectual disability; single words; 1y-sit; 1y6m-walk; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; Glumsy gait; no tics, no tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; postural instability; no urinary incontinence; no seizures; EEG normal; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Premature aging; MRI brain Partial agenesis of the corpus callosum, anterior commissure hypoplasia, short midbrain, small cerebellar vermis, and focal periventricular white matter lesions 1 1 Johan den Dunnen
00443355 Fam1Pat3 PubMed: Kaiyrzhanov 2023 relative M yes Iran Persia - - - - NDD birth at term, weight 3.1 kg (23rd), height 49 cm (33rd), OFC 31 cm (below the 2nd); weight 65 kg (32nd), height 167 cm (9th), OFC 52 cm (2nd); severe global developmental delay/intellectual disability; no speech; 1y6m-sit; not walking; spasticity; spasticity in lower limbs; cerebellar ataxia; not walking; tics and tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; urinary incontinence; 2y-seizures, suspected complex, partial; EEG bilateral poly spike discharge; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Premature aging, Club foot, Urinary incontinence; 1 1 Johan den Dunnen
00443356 Fam2Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Lebanon - - - - - NDD birth at term, weight 3.1 kg (27th), height 47 cm (10th), OFC 33 cm (the 10-25th); weight 23.2 kg (53rd), height 102.5 (below the 1st), ; severe global developmental delay/intellectual disability; single words; not walking; spasticity; cerebellar ataxia; Supported ataxic and spastic gait; tremor; hand tremor (at rest, posture, movement); 3y-seizures myoclonic tonic; EEG multifocal spike waves complexes ; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; everted lower lip; no prognathia; MRI brain Hypoplastic corpus callosum and incomplete hippocampal rotation 1 1 Johan den Dunnen
00443357 Fam3Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) M yes Turkey - - - - - NDD birth 37w, weight 2.3 kg (4th), height 43 cm (below the 1st), OFC 31.5 cm (3rd); weight 95 kg (95th, height 160 cm (1st), OFC 59 cm (99th); severe global developmental delay/intellectual disability; single words; 3y-walk; no impaired smooth eye movements; impaired saccades; no limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Broadly based gait, shuffling, unstable; tremor (intention tremor); no head tremor; hand tremor (at rest, posture, movement); no tics, no tic-like vocalizations; Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; no postural instability; no seizures; EEG normal; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Short philtrum, epicanthus, telecanthus, Nystagmus, high myopia (paternal), arterial hypertension, muscular hypotonia, anxious, very friendly, hyperactive; MRI brain Hypoplasia of the corpus callosum and anterior commissure, associated with the mild reduction of periventricular white matter and ventricular dilatation 1 2 Johan den Dunnen
00443358 Fam3Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Turkey - - - - - NDD birth 37w, weight 2.2 kg (2nd), height 46 cm (4th), OFC 31.5 cm (3rd); weight 78 kg (71st) , height 162 cm (2nd), OFC 54 cm (23rd); severe global developmental delay/intellectual disability; single words; 1y-sit; 2y6m-walk; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; spasticity in lower limbs; no cerebellar ataxia; no upper limb ataxia; abnormal gait; tremor; no head tremor; hand tremor (at rest, posture, movement); tics and tic-like vocalizations; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; no postural instability; no seizures; EEG normal; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip ; everted lower lip ; prognathia; Short philtrum, epicanthus, telecanthus, Cryptorchidism, hypospadias, high myopia (paternal), muscular hypotonia, anxious, very friendly, hyperactive; MRI brain normal 1 1 Johan den Dunnen
00443359 Fam4Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Bangladesh - - - - - NDD OFC 43cm (below the 1st); severe global developmental delay/intellectual disability; delayed speech; spasticity; cerebellar ataxia; abnormal gait; tremor; hand tremor (at rest, posture, movement); neonatal onset GTC seizures ; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no lateral upslanting palpebral fissures; 1 1 Johan den Dunnen
00443360 Fam5Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes Egypt - - - - - NDD birth weight 3.4kg (48th) , height 49.5 cm (51st, +0.02SD) , OFC 34.3cm (37th), ; weight 82kg (90th), height 152cm (5th), OFC 55.1cm (73rd); moderate global developmental delay/intellectual disability; few words; 2y-sit; 6y-walk; no impaired smooth eye movements; impaired saccades; limited upgaze; spasticity (did operation for tendon release); velocity dependent spasticity present; no spasticity in upper limbs; mild spasticity in lower limbs; cerebellar ataxia ; Ataxic and spastic; tremor; head tremor infrequent; hand tremor (at rest, posture, movement); no tics, no tic-like vocalizations; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no urinary incontinence; no orthostatic hypotension; 2y-GTC seizures, occasionaly; EEG multifocal spike; autism; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Hyperactive; MRI brain Short midbrain and inferior vermis hypoplasia 1 2 Johan den Dunnen
00443361 Fam5Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Egypt - - - - - NDD birth weight 3kg (18th), height 48cm (21st), OFC 35cm (35th), ; weight 36kg (99th), height 118cm (70th), OFC 53.3cm (96th); moderate global developmental delay/intellectual disability; few words; 1y8m-sit; 5y6m-walk; no impaired smooth eye movements; impaired saccades; limited upgaze; mild spasticity; velocity dependent spasticity present; no spasticity in upper limbs; mild spasticity in lower limbs; cerebellar ataxia ; Ataxic and spastic; tremor; head tremor infrequent; hand tremor (at rest, posture, movement); no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no urinary incontinence; no orthostatic hypotension; 6m-atonic seizures; EEG generalized; autism; aggression; no self-injury; tantrum temper; sleep disturbance; coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Hyperactive; MRI brain Marked reduction of periventricular white matter with moderate dilatation of the lateral ventricles, hypoplasia of the corpus callosum, and incomplete hippocampal rotation 1 1 Johan den Dunnen
00443362 Fam6Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) M yes Pakistan - - - - - NDD birth at term; weight 60.1 kg (14th), height 158 cm (below the 1st), OFC 54cm (23rd); moderate global developmental delay/intellectual disability; delayed speech; 4y-sit; 5y-walk; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; Ataxic with dystonia in right leg; tremor; head tremor dystonic; hand tremor (at rest, posture, movement); no tics, no tic-like vocalizations; Parkinsonism; upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; leg/foot dystonia; urinary incontinence; no seizures; EEG abnormal awake/drowsy, suggestive of neuronal dysfunction; aggression; no self-injury; tantrum temper; no sleep disturbance; no coarse face; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; prognathia; Premature Aging, Night blindness, Urinary incontinence, developmental delay,breathing differently; MRI brain Short midbrain and small inferior cerebellar vermis 1 2 Johan den Dunnen
00443363 Fam6Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Pakistan - - - - - NDD birth at term; weight 22.3 kg (1st), height 117 cm (below the 1st), OFC 49cm (1st); moderate global developmental delay/intellectual disability; single words; 1y-sit; 5y-walk; squint; no spasticity; cerebellar ataxia; Broad based gait; tremor; hand tremor (at rest, posture, movement); no tics, no tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; no urinary incontinence; no seizures; no aggression; no self-injury; no tantrum temper; sleep disturbance; no coarse face; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; prognathia; MRI brain Hypoplasia of posterior corpus callosum, anterior commissure agenesis, short midbrain, small inferior vermis, and hypertrophy of the clava 1 1 Johan den Dunnen
00443364 Fam7Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected sibs, unaffected heterozygous parents (distant cousins) M yes Pakistan - - - - - NDD weight 90 kg (90th), height 150 cm (below the 1st), OFC 57 cm (91st); moderate global developmental delay/intellectual disability; single words; spasticity; cerebellar ataxia; Ataxic/Spastic; no tremor; no head tremor; no tics, no tic-like vocalizations; no seizures; aggression; no self-injury; tantrum temper; sleep disturbance; coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Premature aging, Kyphosis; MRI brain Hypoplasia of posterior corpus callosum, anterior commissure agenesis, incomplete hippocampal rotation, short midbrain, and hypoplasia of the inferior cerebellar vermis 1 2 Johan den Dunnen
00443365 Fam7Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Pakistan - - - - - NDD weight 55 kg (29th), height 156 cm (3rd), OFC 52 cm (2nd); moderate global developmental delay/intellectual disability; single word; spasticity; cerebellar ataxia; Ataxic/Spastic; no tremor; no head tremor; no seizures; aggression; no self-injury; tantrum temper; sleep disturbance; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Kyphosis; MRI brain Agenesis of the corpus callosum and anterior commissure, colpocephaly, and inferior vermis hypoplasia 1 1 Johan den Dunnen
00443366 Fam8Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes - Tajik - - - - NDD birth 37w, weight 2.6kg (10th), OFC 31 cm (below the 2nd); weight 18kg (1st, -.2.3SD), height 108cm (below the 1st), OFC 46cm (below the 1st); moderate global developmental delay/intellectual disability; no speech; 3y-sit; 4y-walk; squint; spasticity; spasticity in lower limbs; cerebellar ataxia; abnormal gait, broad based; no tremor; no head tremor; tics and tic-like vocalizations; no Parkinsonism; stooping of the body; no lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; no deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Hand stereotipies, Hyperactive; MRI brain Agenesis of the anterior commissure, short midbrain, and inferior vermis hypoplasia 1 2 Johan den Dunnen
00443367 Fam8Pat2 PubMed: Kaiyrzhanov 2023 relative M yes - Tajik - - - - NDD birth 39w, weight 2.98kg (the 5-10th), OFC 32 cm (the 2nd); weight 16kg (2nd, -2SD), height 96cm (below the 1st), OFC 43cm (below the 1st); moderate global developmental delay/intellectual disability; no speech; <3y-sit; 3y6m-walk; spasticity; spasticity in lower limbs; cerebellar ataxia; abnormal gait, broad based; no tremor; no head tremor; tics and tic-like vocalizations; no Parkinsonism; stooping of the body; no lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; no deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Hand stereotipies, Hyperactive; MRI brain normal 1 1 Johan den Dunnen
00443368 Fam9Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Iran Persia - - - - NDD birth at term, weight 3.2 kg (33th), height 51 cm (62nd), ; weight 30 kg (74th), height 122 cm (16th), ; moderate-severe global developmental delay/intellectual disability; single words; sit independently; able to walk; no spasticity; no cerebellar ataxia; normal gait; no tremor; no head tremor; 6m-seizures, suspected partial; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Poor vision; 1 1 Johan den Dunnen
00443369 Fam10Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes Egypt - - - - - NDD birth post 41w, weight 3.2kg (33th), height 49.5cm (51st), OFC 33 cm (11th); weight 25kg (85th), height 113cm (37th), OFC 51cm (53th); severe global developmental delay/intellectual disability; speech delay, few words; sit independently; walks supported; no impaired smooth eye movements; impaired saccades; limited upgaze; spasticity (operation for tendon release); Mild hypertonia; cerebellar ataxia; upper limb ataxia; abnormal gait, unsteady; tremor; Mild; Present; no tics, no tic-like vocalizations; Mild; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; no seizures; EEG focal epileptogenic activity with secondary generalization; no aggression; no self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Closed ASD, hand stereotipies, Hyperactive,Masturnation like movement daily; MRI brain Mild reduction of periventricular white matter and ventricular dilatation, hypoplasia of posterior corpus callosum, anterior commissure agenesis, incomplete hippocampal rotation, short midbrain, and inferior vermis hypoplasia 1 2 Johan den Dunnen
00443370 Fam10Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Egypt - - - - - NDD birth 39w, weight 3.4kg (40th), height 49cm (33rd), OFC 34 cm (20th); weight 15kg (64th), height 95cm (16th), OFC 47cm (3rd); severe global developmental delay/intellectual disability; speech delay, few words; sit independently; unsteady walk; no impaired smooth eye movements; impaired saccades; limited upgaze; spasticity (operation for tendon release in right limb); Mild hypertonia; cerebellar ataxia; upper limb ataxia; abnormal gait, unsteady; tremor; Mild; Very pronounced; no tics, no tic-like vocalizations; Mild; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; no seizures; EEG focal epileptogenic activity with secondary generalization; autism; no aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Hand stereotipies, Hyperactive; MRI brain Hypoplasia of posterior corpus callosum, agenesis of the anterior commissure, and short midbrain with normal cerebellar vermis 1 1 Johan den Dunnen
00443371 Fam11Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Turkey - - - - - NDD birth at term; weight 42kg (1st), height 140cm (below the 1st), OFC 53cm (8th); severe global developmental delay/intellectual disability; single words; 4y-sit; 7y-supportedwalk, short time independent, broad based walk; no impaired smooth eye movements; no impaired saccades; no limited upgaze; no spasticity; cerebellar ataxia; upper limb ataxia; abnormal gait, unsteady; tremor; Mild ; Present ; tics and tic-like vocalizations; stooping of the body; lateral flexion body; no scoliosis; postural instability; not toilet trained; no seizures; EEG normal; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; Mild ; Hand stereotipies, Hyperactive, chronic iliac vein thrombosis; MRI brain Partial agenesis of the corpus callosum, incomplete hippocampal rotation, agenesis of the anterior commissure, ventriculomegaly, short midbrain, and inferior vermis hypoplasia 1 1 Johan den Dunnen
00443372 Fam12Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents F - United States American-native-Choctaw - - - - NDD birth at term, weight 2.438 kg (the 2-5th), ; weight 16.6 kg (50th), height 98.2 cm (5th), OFC 46.5 cm (<2nd); global developmental delay/intellectual disability; few words; 1y-sit; 2y-walk; impaired smooth eye movements; no impaired saccades; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; cerebellar ataxia (mild); no upper limb ataxia; abnormal gait - unsteady, clumsy, falls frequently; no tremor; no head tremor; no head tremor; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; no lateral flexion body; no scoliosis; no leg/foot dystonia; no postural instability; urinary incontinence (developmentally appropriate); no orthostatic hypotension; no seizures; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Cleft palate, telecanthus; 1 2 Johan den Dunnen
00443373 Fam12Pat2 PubMed: Kaiyrzhanov 2023 relative F - United States American-native-Choctaw - - - - NDD birth at term, weight 2.637 kg (5-10th), height 50.8 cm (69th), ; weight 39 kg (>95th), height 106 cm (<5th), OFC 49.5 cm (<2nd); global developmental delay/intellectual disability; few words; 1y-sit; 2y-walk; impaired smooth eye movements; no impaired saccades; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; cerebellar ataxia (mild); no upper limb ataxia; abnormal gait - unsteady, wide-based; no tremor; no head tremor; no head tremor; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; no stooping of the body; no lateral flexion body; no scoliosis; no leg/foot dystonia; no postural instability; urinary incontinence (possibly developmetnally appropriate); no orthostatic hypotension; no seizures; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; 1 1 Johan den Dunnen
00443374 Fam13Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Egypt - - - - - NDD birth 39w Cesarean section, weight 3kg (18th), height 49cm (33rd), OFC 34.2cm (23th); weight 34.3kg (35th), height 123cm (below the 1st), OFC 50cm (1st); moderate global developmental delay/intellectual disability; speech delay only words an letters; 2y-sit; 3y-walk; squint; impaired saccades; limited upgaze; Mild hypertonia; velocity dependent spasticity present; Mild; Hypertonia (did operation for tendon release at 10y); Mild ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); tics and tic-like vocalizations; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; 2y-seizures myoclonic-tonic; EEG bitemporal epileptogenic focus; autism; no aggression; no self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; ASD, hand stereotypic movement, excessive laughing, hyperactive, polyphagia recently; MRI brain Small anterior commissure, mild white matter volume loss, bilateral incomplete hippocampal rotation, and hypertrophy of the clava 1 1 Johan den Dunnen
00443375 Fam14Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Iraq Persian - - - - NDD birth at term, weight 2.61kg (the 5th), height 46 cm (the 2nd), OFC 35 cm (35th); weight 12.8 kg (below 0.4th), height 88.5 cm (below 0.4th), OFC 48 cm (5th); moderate global developmental delay/intellectual disability; few words; 10m-sit; not walking; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; velocity dependent spasticity present; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Not able to walk; tremor; head tremor; hand tremor (at rest, posture, movement); no Parkinsonism; stooping of the body; lateral flexion body; scoliosis; no leg/foot dystoniat able to be perform; postural instability; urinary incontinence; no orthostatic hypotension; no seizures; no autism; aggression; no self-injury; no tantrum temper; sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Hyperactive; MRI brain Posterior corpus callosum hypoplasia, absent anterior commissure, minimal white matter volume loss, bilateral incomplete hippocampal rotation, slightly short midbrain, T2 hyperintensity of the central tegmental tracts, and hypertrophy of the clava. 1 1 Johan den Dunnen
00443376 Fam15Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Egypt - - - - - NDD birth 39w NVD, weight 3kg (18th), height 50cm (48th), OFC 34 cm (20th); weight 26kg (73rd), height 115cm (10th), OFC 52cm (50th); moderate global developmental delay/intellectual disability; speech delay, till now single word; 2y-sit; 3y-walk; squint; impaired saccades; limited upgaze; Mild hypertonia; no spasticity in upper limbs; Mild hypertonia; cerebellar ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no urinary incontinence all the time, urinary incontinence especially in laughing; no orthostatic hypotension; no seizures; EEG normal; autism; no aggression; no self-injury; tantrum temper; sleep disturbance; Mild; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; V-shaped; everted lower lip; no prognathia; Long face; MRI brain Small anterior commissure with normal corpus callosum 1 1 Johan den Dunnen
00443377 Fam16Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Brazil - - - - - NDD birth at term, weight 3kg (21th), height 49cm (33rd), ; weight 54kg (55th), OFC 53cm (2nd); severe global developmental delay/intellectual disability; no speech; sit independently; 8y-walk; impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; no velocity dependent spasticity present; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); Parkinsonian gait; upper limb dystonia on hand pronation-supination test; lateral flexion body, laterocolis; scoliosis, kyphoscoliosis; leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; 11y-seizures, tonic-clonic, weekly; EEG abnormal; Some features; no aggression; self-injury; tantrum temper; no sleep disturbance; coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Very severe myopia; MRI brain Corpus callosum hypoplasia 1 1 Johan den Dunnen
00443378 Fam17Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) M yes Portugal - - - - - NDD severe global developmental delay/intellectual disability; no speech; sit independently; wheelchair-bound; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Confined to wheelchair; tremor; head tremor; hand tremor (at rest, posture, movement); Parkinsonism; stooping of the body; lateral flexion body; coarse face; thin upper lip; MRI brain Agenesis of the corpus callosum 1 2 Johan den Dunnen
00443379 Fam17Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Portugal - - - - - NDD birth weight 3.4 kg (48th); severe global developmental delay/intellectual disability; single words; sit independently; walks; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); stooping of the body; lateral flexion body; Kyphoscoliosis; coarse face; thin upper lip; Small hands and feet; MRI brain Agenesis of the corpus callosum 1 1 Johan den Dunnen
00443380 Fam18Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Saudi Arabia Arab - - - - NDD OFC 50cm (13th); global developmental delay/intellectual disability; single words; sit independently; 3y-walk; squint; slow gait; tremor; no head tremor; Action tremor (hands); urinary incontinence; no seizures; 1 1 Johan den Dunnen
00443381 Fam19Pat1 PubMed: Kaiyrzhanov 2023 family, affected twins, unaffected heterozygous parents (1st cousins) F yes Palestine Arab - - - - NDD birth 32w Cesarean section-PROM, weight 1.742kg (below the 2nd), OFC 26.5 cm (below the 2nd); weight 22.5 kg (80th), height 105 cm (10th), OFC 47 cm (1st); severe global developmental delay/intellectual disability; few words; unable to sit; not walking; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; spasticity in upper limbs; spasticity in lower limbs; Unable to ambulate; upper limb ataxia; abnormal gait on supported walking; tremor; head tremor; hand tremor (at rest, posture, movement); no Parkinsonism; stooping of the body; no lateral flexion body; no scoliosis; leg/foot dystonia; urinary incontinence; no seizures; no autism; no aggression; self-injury; tantrum temper; sleep disturbance; no coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Flexible hand joints, low set coarse ears; long columella; MRI brain Partial agenesis of the corpus callosum and mild hypertrophy of the clava 1 2 Johan den Dunnen
00443382 Fam19Pat2 PubMed: Kaiyrzhanov 2023 twin F yes Palestine Arab - - - - NDD birth weight 1.972kg (below the 2nd), OFC 27 cm (below the 2nd); weight 22 kg (80th), height 104 cm (10th, -1.3SD), OFC 46 cm (1st); severe global developmental delay/intellectual disability; few words; unable to sit; not walking; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; spasticity in upper limbs; spasticity in lower limbs; Unable to ambulate; upper limb ataxia; abnormal gait on supported walking; tremor; head tremor; hand tremor (at rest, posture, movement); no Parkinsonism; stooping of the body; no lateral flexion body; no scoliosis; leg/foot dystonia; urinary incontinence; no seizures; no autism; no aggression; self-injury; tantrum temper; sleep disturbance; no coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Flexible hand joints, low set coarse ears; long columella; MRI brain Partial agenesis of the corpus callosum and mild hypertrophy of the clava 1 1 Johan den Dunnen
00443383 Fam20Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes Iraq - - - - - NDD birth weight 3kg (21st); weight 25kg (below the 1st), height 110cm (below the 1st), ; moderate global developmental delay/intellectual disability; able to talk; sit independently; not walking; no impaired smooth eye movements; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; no tremor; no head tremor; no head tremor; no Parkinsonism; upper limb dystonia on hand pronation-supination test; stooping of the body; no lateral flexion body; no scoliosis; leg/foot dystonia; no postural instability; urinary incontinence; no orthostatic hypotension; no seizures; no autism; no aggression; no self-injury; tantrum temper; no sleep disturbance; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; normal head CT 1 2 Johan den Dunnen
00443384 Fam20Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Iraq - - - - - NDD birth weight 3kg (21st); weight 13kg (below the 1st), height 80cm (below the 1st), ; moderate global developmental delay/intellectual disability; no speech; unable to sit; not walking; squint; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; no tremor; no head tremor; no head tremor; no Parkinsonism; upper limb dystonia on hand pronation-supination test; stooping of the body; no lateral flexion body; no scoliosis; leg/foot dystonia; no postural instability; urinary incontinence; no orthostatic hypotension; no seizures; no autism; no aggression; no self-injury; tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; normal head CT 1 1 Johan den Dunnen
00443385 Fam21Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents F no - Europe - - - - NDD birth 39w+4, birth weight 2.8 kg (12th), height 48 cm (21st), OFC 33 cm (11th); weight 40 kg (50th), height 130 cm (1st, -2.5 SD), OFC 53 cm (50th); severe global developmental delay/intellectual disability; few words; 2y-sit; not walking; no spasticity; no spasticity in upper limbs; no spasticity in lower limbs; no cerebellar ataxia; no upper limb ataxia; abnormal gait; no tremor; no head tremor; no tics, no tic-like vocalizations; no Parkinsonism; stooping of the body; no lateral flexion body; leg/foot dystonia; 7m-seizures, spasms, multiple per day; EEG slow background activity with temporal-occipital spikes, increased in sleep, 4y-epileptic spasms, 10y-interictal diphasic centro-temporal spikes; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Long columella, high arched eyebrows; tapered fingers; joint laxity; suspected obstructive sleep apnea; strabismus, hyperopia, normal fundus; recurrent upper respiratory tract infections; MRI brain Mild cerebellar atrophy and corpus callosum hypoplasia. Not independently reviewed 1 1 Johan den Dunnen
00443386 Fam22Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents F - United States America-N - - - - NDD global developmental delay/intellectual disability; autism; 1 2 Johan den Dunnen
00443387 Fam22Pat2 PubMed: Kaiyrzhanov 2023 relative F - United States America-N - - - - NDD global developmental delay/intellectual disability; autism; 1 1 Johan den Dunnen
00443388 Fam23Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (2nd cousins) M yes Saudi Arabia Arab - - - - NDD birth at term; weight 75th, height 120 cm (75th), OFC 50.5 (50th); moderate global developmental delay/intellectual disability; few words; 3y-walk; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; spasticity in lower limbs; no cerebellar ataxia; no upper limb ataxia; Toe walking; no tremor; no head tremor; no head tremor; no scoliosis; no postural instability; no orthostatic hypotension; 2y-seizures; no autism; aggression; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; MRI brain Reported to be Normal. Not independently reviewed 1 2 Johan den Dunnen
00443389 Fam23Pat2 PubMed: Kaiyrzhanov 2023 relative M - Saudi Arabia Arab - - - - NDD birth at term, height 43cm (<1st), ; weight 8.2kg (25th-50th), ; moderate global developmental delay/intellectual disability; few words; 1y-sit; no impaired smooth eye movements; no impaired saccades; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; no cerebellar ataxia; no upper limb ataxia; no tremor; no head tremor; no head tremor; no scoliosis; no urinary incontinence; no seizures; no autism; no aggression; no self-injury; no tantrum temper; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; 1 1 Johan den Dunnen
00443390 Fam24Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - NDD birth 39w+1, weight 3.17 kg (18th), height 48.5 cm (8th), OFC 33.5 cm (8th); weight 12.6 kg (90th), height 87 cm (98th), OFC 48.7 cm (85th); moderate global developmental delay/intellectual disability; few words; 2y-sit; not walking; no limited upgaze; no spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; no spasticity in lower limbs; no cerebellar ataxia; no upper limb ataxia; no tremor; no head tremor; no head tremor; no tics, no tic-like vocalizations; no upper limb dystonia on hand pronation-supination test; no lateral flexion body; no scoliosis; no leg/foot dystonia; no postural instability; urinary incontinence; no seizures; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Developmentaly improving with age 1 1 Johan den Dunnen
00443391 Fam25Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Saudi Arabia - - - - - NDD birth at term; severe global developmental delay/intellectual disability; no speech; not walking; No walking; seizures; EEG 3m-normal; Able to crawl; MRI brain 6y-normal 1 1 Johan den Dunnen
00443392 Fam26Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents M yes Iraq - - - - - NDD severe global developmental delay/intellectual disability; spasticity; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Spastic-ataxic; Obesity; 1 2 Johan den Dunnen
00443393 Fam26Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Iraq - - - - - NDD severe global developmental delay/intellectual disability; spasticity; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Spastic-ataxic; Obesity; 1 1 Johan den Dunnen
00443394 Fam27Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents M yes - Asia;Punjab - - - - NDD birth 38w, weight 2.5kg (5th), height 50cm, OFC 35cm (35th); weight 60kg (75-91th), OFC 53.5cm (17th); global developmental delay/intellectual disability; speech delay; 1y2m-sit; 4y-walk; impaired smooth eye movements; impaired saccades; limited upgaze; spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Ataxic; tremor; head tremor (Mild); hand tremor (at rest, posture, movement) (intention); no tics, no tic-like vocalizations; Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; leg/foot dystonia; no postural instability; no urinary incontinence; no orthostatic hypotension; no seizures; EEG normal; Mild, echolalia, hand flapping; aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face (mild); deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; no everted lower lip; no prognathia; Obesity ; MRI brain Callosal hypoplasia with prevalent involvement of the posterior sections, persistent caves verage/cavum SP. Anterior commissure hypoplasia, mild WM volume reduction 1 2 Johan den Dunnen
00443395 Fam27Pat2 PubMed: Kaiyrzhanov 2023 relative M yes - Asia;Punjab - - - - NDD birth at term; weight 35kg (50th), OFC 50 cm (1st); global developmental delay/intellectual disability; speech delay; 1y-sit; 3y-walk; impaired smooth eye movements; impaired saccades; no limited upgaze; spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Ataxic ; tremor; head tremor; hand tremor (at rest, posture, movement); tics and tic-like vocalizations; Abnormal choreoform movements; Abnormal choreoform movements; stooping of the body; lateral flexion body; no scoliosis; leg/foot dystonia; no postural instability; no urinary incontinence; no orthostatic hypotension; 9y-seizures, 1-2/month; EEG normal; Moderate; aggression ; no self-injury; no tantrum temper; no sleep disturbance; coarse face, more than elder brother; deep set eyes, more than elder brother; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Obesity; MRI brain Callosal hypoplasia with prevalent involvement of the posterior sections. Anterior commissure hypoplasia, 1 1 Johan den Dunnen
00443396 Fam28Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents F no Thailand - 31y - - - NDD 31y-deceased; birth at term, weight normal, height normal, OFC normal; weight 101kg, height 80th, ; global developmental delay/intellectual disability; speech delay; spasticity; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; Spastic-ataxic; no tremor; no head tremor; no head tremor; Parkinsonism; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; EEG normal; autism; aggression; tantrum temper; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; everted lower lip; no prognathia; Pancytopenia with severe infections, diabetes mellitus, cirrhosis and renal failure. Obesity; MRI brain CT Brain from the report: Mild difuse brain atrophy and diffuse thickened cranial vault. Not independently reviewed. Brain MRI is not available. 1 2 Johan den Dunnen
00443397 Fam28Pat2 PubMed: Kaiyrzhanov 2023 relative M no Thailand - 30y - - - NDD 30y-deceased; birth at term, weight normal, height normal, OFC normal; height 80th, ; global developmental delay/intellectual disability; speech delay; spasticity; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; Spastic-ataxic; no tremor; no head tremor; no head tremor; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; EEG normal; autism; aggression; tantrum temper; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; everted lower lip; no prognathia; Obesity; 1 1 Johan den Dunnen
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