Phenotypes for disease #00504 (KABUK2 (syndrome, Kabuki, type 2 (KABUK2)), OMIM:300867)

28 entries on 1 page. Showing entries 1 - 28.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000052983 mental retardation - - Unknown - - - - - Lucy Raymond 00073308
0000052984 mental retardation - - Unknown - - - - - Lucy Raymond 00073309
0000052985 see paper - - Unknown - - - - - Noriko Miyake 00073310
0000052986 - - - Unknown - - - - - Noriko Miyake 00073311
0000052987 see paper - - Isolated (sporadic) - - - - - Noriko Miyake 00073312
0000052988 - - - Unknown - - - - - Giuseppe Merla 00073313
0000052989 - - - Unknown - - - - - Giuseppe Merla 00073314
0000052990 - - - Isolated (sporadic) - - - - - Giuseppe Merla 00073315
0000052991 see paper - - Isolated (sporadic) - - - - - Johan den Dunnen 00073316
0000052992 see paper - - Isolated (sporadic) - - - - - Johan den Dunnen 00073317
0000052993 see paper - - Isolated (sporadic) - - - - - Johan den Dunnen 00073318
0000052994 see paper - - Isolated (sporadic) - - - - - Johan den Dunnen 00073319
0000052995 see paper - - Unknown - - - - - Johan den Dunnen 00073320
0000052996 - - - Isolated (sporadic) - - - - - Glynis Frans 00073321
0000052997 not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; no high arched palate; micrognathia; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; seizures; structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; pulmonary infections; frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche Kabuku syndrome KABUK2 Isolated (sporadic) - - - - - Nina Bögershausen 00073322
0000052998 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; no long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; micrognathia; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no neonatal hypoglycemia; sacral dimple, simian crease, widely spaced nipples Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073323
0000052999 small for gestational age; short stature; microcephaly; no large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; no long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; no short columella; no downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; selective tooth agenesis; no supernumerary teeth; malocclusion; no dental caries; prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; no joint laxity; no foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; no muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; horseshoe kidney Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073324
0000053000 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; hip dysplasia; no joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; juvenile idiopathic osteoarthritis Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073325
0000053001 small for gestational age; short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; no short columella; downslanting corners mouth; no cataracts; strabismus; no cleft palate; micrognathia; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no immunodeficiency; no tumor; no leukemia; no obesity; cachexia, no walking, no speech at age 10 Kabuku syndrome KABUK2 Unknown - - 1d - - Nina Bögershausen 00073326
0000053002 not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; no strabismus; cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; no muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; thorax asymmetry Kabuku syndrome - Familial, autosomal dominant - - 1d - - Nina Bögershausen 00073327
0000053003 - Kabuku syndrome KABUK2 Familial, autosomal dominant - - 1d - - Nina Bögershausen 00073328
0000053004 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; no intellectual disability; muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; premature thelarche; bicuspid aortic valve, accessory spleen Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073329
0000053005 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; high arched palate; no micrognathia; no brachydactyly of the fifth finger; no clinodactyly fifth finger; hip dysplasia; no joint laxity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; structural brain anomaly; no hearing loss; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no tumor; no leukemia; neonatal hypoglycemia; left ventricular hypertrophy Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073330
0000053006 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; no foot deformity; nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; isolated persistent left superior vena cava, hyperinsulinism Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073331
0000053007 small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; autoimmunity suspected due to vitiligo Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073332
0000053008 small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; mild unilateral ptosis, bilateral simian crease, hyperactivity, hand‐flapping, bruxism Kabuku syndrome KABUK2 Isolated (sporadic) - - 1d - - Nina Bögershausen 00073333
0000053223 Kabuki syndrome?, see paper; ... - - Isolated (sporadic) - - - - - Johan den Dunnen 00073549
0000223198 - - - Familial, X-linked dominant - - - - - Ehsan Jafarinia 00295634
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