Phenotypes for disease #00668 (KLEFS (syndrome, Kleefstra (KLEFS)))

19 entries on 1 page. Showing entries 1 - 19.
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0000038731 - severe 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, no short nose, no anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, no brachydactyly, simian crease, normal genitals, cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, no behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures - Isolated (sporadic) 04y - - - - - Johan den Dunnen 00052109
0000038732 - severe 9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, no coarse facies, no hypertelorism, synophrys, no downslant palpebral fissures, no upslant palpebral fissures, no arched eyebrows, no short nose, no anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, normal ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, sleep disturbances, no hearing loss, hypotonia, no seizures - Isolated (sporadic) 16y - - - - - Johan den Dunnen 00052111
0000038733 - severe 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, no coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, normal ears, no brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, no behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures - Isolated (sporadic) 01y06m - - - - - Johan den Dunnen 00052114
0000038734 - severe 9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures - Isolated (sporadic) 36y - - - - - Johan den Dunnen 00052115
0000038735 - severe 9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, malformed ears, brachydactyly, simian crease, abnormal genitals (males), no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures - Isolated (sporadic) 08y - - - - - Johan den Dunnen 00052116
0000038736 - yes 9q subtelomeric deletion syndrome; weight >>99th, height >>99th, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-abnormal myelination; disturbed sleep pattern, self mutilation, hyperphagia; 17m-walk, 5y-speech few words - Isolated (sporadic) 03y - - - weight 4380 (95th) - Johan den Dunnen 00052117
0000038737 - severe 9q subtelomeric deletion syndrome; weight 95th, height 50th, OFC 50th; childhood hypotonia, facial dysmorphism; patent FO (closed spontaneously), no epilepsy, constipation incontinent for urine/faeces, MRI-normal; temper tantrums/tics, rigid and ritualistic behaviour, apathic/depressive behaviour with loss of all interests since age 13 years; walk-30m; speech 3–4 words - Isolated (sporadic) 13y - - - weight 4000 (90th) - Johan den Dunnen 00052118
0000038738 - yes 9q subtelomeric deletion syndrome; weight 90th, height 90th, OFC 16th; childhood hypotonia, facial dysmorphism; no heart defect, First at age 7, generalised with right posterior focal onset, , MRI-mildly enlarged ventricles; poor eye contact, teeth grinding (all improving); walk-2y, jumping/running-7y; speech 3y-5 words, 7y->100 words - Isolated (sporadic) 07y - - - weight 3822 (75-90th) - Johan den Dunnen 00052119
0000038739 - severe 9q subtelomeric deletion syndrome; weight 90th, height 75th, OFC 90th; childhood hypotonia, facial dysmorphism; pulmonary stenosis, no epilepsy; 8y-glue ear requiring grommets, hypermobile joints, delayed secondary dentition; MRI-normal myelination, normal ventricles, some prominence of sylvian fissures with frontal lobe hypoplasia; trusting and friendly personality; walk-3y, 7y cannot run, unable to ride bicycle; some speech, in general 'signs' - Isolated (sporadic) 07y - - - weight 4100 (90th) - Johan den Dunnen 00052120
0000038740 - yes 9q subtelomeric deletion syndrome; weight 50th, height 84th, OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-normal; autism spectrum; walked22m; no speech - Isolated (sporadic) 02y07m - - - weight 2495 (<5th) - Johan den Dunnen 00052121
0000038741 - mild 9q subtelomeric deletion syndrome; OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, gastro-oesophageal reflux, cryptorchidism (prenatal NT), MRI-corpus callosum hypoplasia; autism spectrum - Isolated (sporadic) 03y - - - weight 2690 (<5th) - Johan den Dunnen 00052122
0000038742 - - 9q subtelomeric deletion syndrome; childhood hypotonia, facial dysmorphism; ventricular septum defect aortic coarctation, no epilepsy, micropenis, cryptorchidism, vesico-ureteral reflux, hearing loss inguinal, peri-umbilical and epigastric hernia, MRI-mildly dilated ventricles, reduction in white matter volume; frustration and tantrums; severely delayed; speech only few words, uses signing and picture cards - Isolated (sporadic) 04y - - - weight 3200 (25th), OFC 33cm (2nd) - Johan den Dunnen 00052123
0000038743 - yes 9q subtelomeric deletion syndrome; weight 50th, height 2-16th; childhood hypotonia, facial dysmorphism; innocent murmur, no epilepsy, MRI-normal; psychiatric symptoms, behavioral features - Isolated (sporadic) 04y - - - weight 4500 (>95th) - Johan den Dunnen 00052124
0000038744 - - 9q subtelomeric deletion syndrome; weight >95th, height >>95th, OFC 50th; childhood hypotonia, facial dysmorphism; Tetralogy of Fallot, no epilepsy, mixed hearing loss, umbilical hernia - Isolated (sporadic) 04y - - - weight 3800 (75-90th) - Johan den Dunnen 00052125
0000038745 - yes 9q subtelomeric deletion syndrome; weight 50th, height 2nd, OFC 0.6th; childhood hypotonia, facial dysmorphism; no heart defect, Absences tonic-clonic insults, scoliosis, MRI-small pons, slight central atrophy of both hemispheres (peg examination); disturbed sleep pattern, aggressive outbursts, active and passive periods ; regression, sit-18m, walk-4y; speech few words when young (papa, mama, car) - Isolated (sporadic) 52y - - - weight normal - Johan den Dunnen 00052126
0000038746 - yes 9q subtelomeric deletion syndrome; weight 2nd, height 2nd, OFC 5th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, tracheo-/bronchomalacia, chronic renal insufficiency, MRI-small brainstem; no walk-7y; speech 7y-3 words - Isolated (sporadic) 07y - - - weight 50th - Johan den Dunnen 00052127
0000038747 - yes 9q subtelomeric deletion syndrome; weight 99.6th, height 98th, OFC 16th; childhood hypotonia, facial dysmorphism; innocent murmur, complex partial seizures, inguinal and umbilical hernia, MRI-increased csf spaces over frontal lobes and sylvian fissures compatible with atrophy; hyperactive, aggressive outbursts, temper tantrums, disturbed sleep pattern, autistic traits, hand flapping; delayed, sit-11m, walk2.5y; speech many single words, some phrases, short sentences - Isolated (sporadic) 08y - - - weight 3650 (50-75th) - Johan den Dunnen 00052128
0000038748 - - 9q subtelomeric deletion syndrome; weight 50th, height 3rd, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, abnormal EEG, no epilepsy, Hearing loss, small ears, small hands, supernumerary nipples, cryptorchidism, MRI-normal; psychoses passiveness; 16y-temporary regression, dementia-like - Isolated (sporadic) 20y - - - weight 4350 (>90th) - Johan den Dunnen 00052129
0000070609 - - severe IDD with regression, autism, hypotonia, dysmorphic facial features (incl. bilateral megalocornea); neurodegeneration with loss of skills - Familial, autosomal dominant - - - - - - Johan den Dunnen 00092273
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