Phenotypes for disease #00126 (SCKL (Seckel syndrome (SCKL)))

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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

Protein: result from protein staining

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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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11 entries on 1 page. Showing entries 1 - 11.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000188408	-	-	primary microcephaly	Familial, autosomal recessive	-	-	-	-	-	REVY	00249443
0000188410	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00249445
0000188411	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00249446
0000347851	Seckel syndrome	MOPD2	Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay; MRI thin corpus callosum, increased extra-axial spaces, reduced white matter; 46XY	Familial, autosomal recessive	03y	-	-	-	-	Johan den Dunnen	00114686
0000347852	Seckel syndrome	MOPD2	Receding forehead, peaked prominent nose, microretrognathia. Short neck, low posterior hairline. Some areas of skin hyperpigmentation. Significant learning difficulties. Dysplastic hips, unequal femur length. Myopia. Short mid-phalanges. Diabetes Mellitus. 46XX.	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00114687
0000347853	Seckel syndrome	MOPD2	Prominent nose, small ears, receding forehead and chin. Short philtrum. Deep voice, small broken?? teeth. No abnormal pigmentation. Proportionate short stature. Normal skeletal survey with minor scoliosis. Slightly advanced bone age. 46XX. IQ 44. Growth Hormone levels normal	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00114689
0000347854	Seckel syndrome	MOPD2	Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain.	Familial, autosomal recessive	03y	-	-	-	-	Johan den Dunnen	00114694
0000347883	Seckel syndrome	MOPD2	see paper; ..., prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead, receded hairline, sparse scalp hair, beaked nose, mild retrognathia, hypotonia; 3y-paralyzed due to cerebrovascular malformation; X-ray 3y-high iliac wings, narrow ischia/pubis, overtubulated long bones, delta-shaped distal femoral metaphysis,marked widening	Familial, autosomal recessive	03y	-	-	-	-	Johan den Dunnen	00460158
0000350046	microcephaly	-	see paper; ..., severe microcephaly, growth delay, dysmorphic facial feature; birth weight 2.06kg, OFC 27.1cm; 14m-- weight -5 SD, height -5 SD, OFC -9 SD; micrognathia, receding forehead, prominent nose; dental crowding; small ear lobes; bilateral 5th finger clinodactyly; delayed bone age (wrist/hips), symmetric dwarfism; MRI 14m-generalised cerebral atrophy, normal ventricular systems, delayed myelination anterior limb internal capsule, pituitary present though unusual shape with absent fossa	Familial, autosomal recessive	00y14m	-	-	-	-	Johan den Dunnen	00462568
0000350047	SCKL	SCKL1	see paper; ..., birth weight 1.15kg, height 36cm, OFC 27cm; 20m weight -8 SD, height -8 SD, OFC -10 SD; micrognathia, prominent nose, hypoplastic alae nasi, low set columella, deep set short palpebral fissures; 20m-4 teeth; ears mall, round, low set, poorly formed antihelix tragus/antitragus, sbsent lobes; small hands, tapering fingers; symmetric dwarfism; small patellae; no joint hypermobility, no kyphoscoliosis; normal skin pigmentation; small feet with metatarsus adductus	Familial, autosomal recessive	00y20m	-	-	-	-	Johan den Dunnen	00462569
0000350048	SCKL	SCKL1	see paper; ..., birth weight 0.77kg, OFC 24.2cm; 4y6m weight -7 SD, height -8 SD, OFC -10 SD; micrognathia, blepharophimosis, short palpebral fissures, prominent nose, high nasal bridge, high anterior hairline; dental crowding; small ears, no lobes; bilateral 5th finger clinodactyly, 5th metacarpels appear short, blue colouration to both thenar eminence;s ymmetric dwarfism; copper beaten skull; 4y-no ossification patellae; marked hip/shoulder flexibility; no kyphosis; MRI 2y-abnormal gyration posterior aspect cingulated gyrus extending into thparietal occipital region, hypoplastic corpus collasum; normal skin pigmentation; developmental delay, 15m-sit, 3y10m-wal; high pitched voice, asthma, multiple chest infections, feeding difficulties-reflux (gastrostomy fed); 17m-multiple liver cysts consistent with Caroli's disease	Familial, autosomal recessive	04y06m	-	-	-	-	Johan den Dunnen	00462570

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Global Variome shared LOVD

TECPR2 (tectonin beta-propeller repeat containing 2)