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

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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30 entries on 1 page. Showing entries 1 - 30.

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Phenotype 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
0000268962	HP:0004322;HP:0004325;HP:0001276;HP:0000504;HP:0000648;HP:0001643;HP:0001631;HP:0006956; HP:0002079; HP:0001263; HP:0000988	-	Kabuki syndrome 2 (OMIM 300867)	Familial, X-linked dominant	-	-	-	-	-	Wenjuan Qiu	00373738
0000272297	Abnormality of body height, Microcephaly, Behavioral abnormality, Global developmental delay, Growth delay, Intrauterine growth retardation, Short stature, Aplasia/Hypoplasia of the cerebrum, Abnormal nervous system physiology, Neurodevelopmental delay, Decreased head circumference	-	5y	Familial, X-linked dominant	-	-	-	-	-	Andreas Laner	00377134

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Global Variome shared LOVD