Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Diagnosis/Initial: initial diagnosis, before molecular testing
Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
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
- 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/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
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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|
|
Legend |
How to query |
 Phenotype ID
|
 Diagnosis/Initial
|
Diagnosis/Definite
|
Phenotype details
|
Inheritance
|
Age/Examination
|
Age/Diagnosis
|
Age/Onset
|
Phenotype/Onset
|
Owner
|
Individual ID
|
| 0000248995 |
Michels syndrome |
3MC3 |
small stature (<3rd); no arched eyebrows; blepharoptosis; epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330802 |
| 0000248996 |
Michels syndrome |
3MC3 |
small stature (<3rd); no arched eyebrows; blepharoptosis; epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); cleft lip (unilateral); no cleft lip (bilateral); cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; pre-axial polydactyly; no diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330803 |
| 0000248997 |
Malpeuch syndrome |
3MC3 |
no small stature (<3rd); no arched eyebrows; blepharoptosis; epicanthus inversus; no hypertelorism; dysplastic ears; ear pit(s); no cleft lip (unilateral); cleft lip (bilateral); no cleft palate (unilateral); cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; sacral dimple/crease; clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330804 |
| 0000248998 |
Carnevale syndrome |
3MC1 |
no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); cleft lip (bilateral); no cleft palate (unilateral); cleft palate (bilateral); developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; patent ductus arteriosus; no horseshoe kidney; micropenis; undescended testes; no corneal clouding; no deep set nails; no feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330805 |
| 0000248999 |
Carnevale syndrome |
3MC2 |
no small stature (<3rd); arched eyebrows; blepharoptosis; no epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330806 |
| 0000249000 |
Carnevale syndrome |
3MC2 |
no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330807 |
| 0000249001 |
Carnevale syndrome |
3MC2 |
no small stature (<3rd); arched eyebrows; no blepharoptosis; no epicanthus inversus; no hypertelorism; dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; horseshoe kidney; no micropenis; no undescended testes; corneal clouding; deep set nails; feeding difficulties |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330808 |
| 0000249002 |
Carnevale syndrome |
3MC2 |
no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330809 |
| 0000249003 |
Carnevale syndrome |
3MC2 |
no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330810 |
| 0000249004 |
Malpuech syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330811 |
| 0000249005 |
Malpuech syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330812 |
| 0000249006 |
Malpuech syndrome/Michels syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; caudal appendage; genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330813 |
| 0000249007 |
Malpuech syndrome/Michels syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330814 |
| 0000249008 |
Carnevale syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330815 |
| 0000249009 |
Malpuech syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330816 |
| 0000249010 |
Mingarelli syndrome |
3MC2 |
no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330817 |
| 0000249011 |
Carnevale syndrome |
3MC2 |
growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330818 |
| 0000249012 |
Carnevale syndrome |
3MC1 |
no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330819 |
| 0000249013 |
Malpuech syndrome |
3MC1 |
growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330820 |
| 0000249014 |
Malpuech syndrome |
3MC1 |
growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330821 |
| 0000249015 |
3MC syndrome |
3MC1 |
no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330822 |
| 0000249016 |
3MC syndrome |
3MC1 |
no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; caudal appendage; genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330823 |
| 0000249017 |
Michels syndrome |
3MC1 |
growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; genital anomaly; no diastasis recti |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330824 |
| 0000249018 |
3MC syndrome |
3MC1 |
see paper; ..., no short stature, mental retardation; arched eyebrows, no telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330825 |
| 0000249019 |
3MC syndrome |
3MC1 |
see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; no deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; no vesicorenal anomalies; caudal appendage |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330826 |
| 0000249020 |
3MC syndrome |
3MC1 |
see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, no hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; no hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage |
Familial, autosomal recessive |
- |
- |
- |
- |
Johan den Dunnen |
00330827 |
| 0000254695 |
3M syndrome |
- |
- |
Unknown |
- |
- |
- |
- |
Cynthia Silveira |
00359454 |
| 0000254696 |
3M syndrome |
- |
- |
Unknown |
- |
- |
- |
- |
Cynthia Silveira |
00359455 |
|
|
Legend |
How to query |
