Phenotypes for disease #05362 (LIS (lissencephaly))

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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/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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72 entries on 1 page. Showing entries 1 - 72.

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How to query

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000119732	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00146778
0000119733	lissencephaly, type II	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00146780
0000119734	lissencephaly, type II	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00146781
0000119735	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00146782
0000123855	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00151486
0000124529	lissencephaly, type II	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152186
0000124530	lissencephaly, type II	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152187
0000124531	lissencephaly, type II	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152188
0000124532	lissencephaly, type II	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152189
0000124533	lissencephaly, type II	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152190
0000124534	lissencephaly, type II	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152191
0000124693	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152350
0000124694	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152351
0000124695	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152352
0000124697	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152354
0000124698	lissencephaly, type II	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00152355
0000124699	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152356
0000124700	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152357
0000124701	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152358
0000124702	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152359
0000124703	lissencephaly, type II	-	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00152360
0000124704	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152361
0000124710	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152367
0000124711	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152368
0000124712	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152369
0000124823	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152480
0000124824	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152481
0000124825	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152482
0000124826	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152483
0000124827	lissencephaly, type II	-	-	Unknown	-	-	-	-	Johan den Dunnen	00152484
0000125537	lissencephaly type II	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00152575
0000125565	lissencephaly, type II	-	22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders	Isolated (sporadic)	-	<0d	-	-	Johan den Dunnen	00152636
0000125566	lissencephaly, type II	-	fetus triventricular hydrocephalus, no encephalocele, no retinal dysplasia, no other visceral abnormalities	Isolated (sporadic)	-	<0d	-	-	Johan den Dunnen	00152637
0000242110	-	-	(+) Abnormal nervous system morphology,(+) Abnormal myelination,(+) Abnormal CNS myelination,(+) Leukodystrophy,(+) Abnormal involuntary eye movements,(+) Nystagmus,(+) Spasticity,(+) Abnormality of movement,(+) Hypogonadism,(+) Male hypogonadism,(+) CNS hypomyelination,(+) Peripheral hypomyelination,(+) Hypoplasia of the corpus callosum	Unknown	02y	-	-	-	Andreas Laner	00320066
0000346978	complex neurodevelopmental disorder	LIS10	HP:0000276, HP:0001250, HP:0001339, HP:0010864, HP:0002187, HP:0003202, HP:0004322, HP:0009055, HP:0100807	Isolated (sporadic)	-	-	-	-	Marketa Wayhelova	00458543
0000352682	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, moderate hemisphere hypoplasia, foliar dysplasia; birth OFC 36 cm (SD+1.1); weight 13.7 kg (SD−1.7), height 105 cm (SD−0.5), OFC 50.5 cm (SD0); global developmental delay; hypotonia; no spasticity; 1y-sit; 3y-walk; speech >40 words; severe intellectual disability; 5m-onset seizures, seizures, infantile spasm; hand flapping; cortical visual impairment, left optic-nerve hypoplasia; abnormal eye movements; left exotropia; no feeding abnormality; ventriculoseptal defect	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00467475
0000352683	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 28 kg (SD+1), height 128 cm (SD0), OFC 53 cm (SD+0.7); global developmental delay; hypotonia; no spasticity; not sitting; not walking; speech 10 syllables; severe intellectual disability; 6m-onset seizures, seizures, infantile spasm, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; abnormal eye movements; exotropia; impaired feeding (gastrostomy tube)	Isolated (sporadic)	7y6m	-	-	-	Johan den Dunnen	00467476
0000352684	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 13.5 kg (SD+1.7), height 103 cm (SD−1), OFC 45.5 cm (SD−1); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, SE, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; cortical visual impairment; normal eye movements; impaired feeding (gastrostomy tube)	Isolated (sporadic)	5y6m	-	-	-	Johan den Dunnen	00467477
0000352685	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem thick tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; birth OFC 31 cm (SD−1); weight 14 kg (SD−3), height 116 cm (SD−1), OFC 47 cm (SD+0.5); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, myoclonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality	Isolated (sporadic)	7y	-	-	-	Johan den Dunnen	00467478
0000352686	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; 32.5 cm (SD−1.5); weight 35.2 kg (SD−3), height 150 cm (SD−2), OFC 49.5 cm (SD−4); global developmental delay; hypotonia; spasticity; 1y-sit; 5y-walk; speech 3 words; severe intellectual disability; 7m-onset seizures, focal seizure with impaired awareness, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; nystagmus horizontal	Isolated (sporadic)	16y	-	-	-	Johan den Dunnen	00467479
0000352687	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 29.0 kg (SD−4), height 137 cm (SD−4), OFC 47.7 cm (SD−5); global developmental delay; hypotonia; spasticity; not sitting; not walking; speech 3 words; severe intellectual disability; 5m-onset seizures, focal seizure with impaired awareness, focal tonic-clonic seizure, generalized tonic-clonic seizure; mixed dyskinesia; no vision abnormalities; esotropia	Isolated (sporadic)	16y	-	-	-	Johan den Dunnen	00467480
0000352688	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 22 kg (SD−0.4), height 50 cm (SD−2); global developmental delay; hypotonia; spasticity (legs); 1y6m-sit; 7y-walks few steps; no speech; severe intellectual disability; 6m-onset seizures, probable generalized tonic-clonic seizure; mixed dyskinesia; eye movements slow tracking; no feeding abnormality; dysmorphic (hypertelorism, low nasal bridge, epicanthal folds, low-set ears)	Isolated (sporadic)	7y	-	-	-	Johan den Dunnen	00467481
0000352689	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum no vermis hypoplasia, no hemisphere hypoplasia, foliar dysplasia; birth OFC 33.5 cm (SD+0.4); weight 10.0 kg (SD−1.6), height 82.5 cm (SD−1.6), OFC 47.2 cm (SD−0.4); global developmental delay; no hypotonia; no spasticity; 1y-sit; 3y-walk with support; no speech; severe intellectual disability; 5y-onset seizures, myoclonic seizure, generalized tonic-clonic seizure; hand waving; eye movements abduction limited (ocular abduction limited to half normal excursion); no feeding abnormality	Isolated (sporadic)	2y6m	-	-	-	Johan den Dunnen	00467482
0000352690	lissencephaly	LIS9	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; normal anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, normal pons, subtle wide pons/medulla, normal base of pons, no pontine hypoplasia; cerebellum normal vermis, normal hemisphere, no foliar dysplasia; weight 20.4 kg (SD+0.7), height 107.9 cm (SD−0.1), OFC 51.3 cm (SD0); mild developmental delay; no hypotonia; no spasticity; 7m-sit; 1y6m-walk; 1y6m-speech; severe intellectual disability; 4y3m-onset seizures, focal seizure with impaired awareness, generalized tonic-clonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00467483
0000352730	hearing loss	-	moderate-severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467520
0000352731	hearing loss	DFNB12	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467521
0000352732	hearing loss	DFNB29	moderate-severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467522
0000352733	hearing loss	-	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467523
0000352734	hearing loss	DFNB3	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467524
0000352735	hearing loss	DFNB3	moderate-severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467525
0000352736	hearing loss	DFNB9	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467526
0000352737	hearing loss	DFNB84A	moderate-severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467527
0000352738	hearing loss	DFNB4	profound hearing loss (progressive)	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467528
0000352739	hearing loss	DFNB4	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467529
0000352740	hearing loss	DFNB4	severe hearing loss, asymmetric	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467530
0000352741	hearing loss	DFNB4	moderate-severe hearing loss (progressive)	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467531
0000352742	hearing loss	DFNB4	moderate-severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467532
0000352743	hearing loss	DFNB4	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467533
0000352744	hearing loss	DFNB4	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467534
0000352745	hearing loss	DFNB4	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467535
0000352746	hearing loss	DFNB4	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467536
0000352747	hearing loss	DFNB4	moderate hearing loss, asymmetric	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467537
0000352748	hearing loss	DFNB4	moderate-severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467538
0000352749	hearing loss	-	severe hearing loss	Familial, autosomal recessive	-	-	-	-	Hina Khan	00467539
0000352750	hearing loss	-	moderate hearing loss	Familial, autosomal dominant	-	-	-	-	Hina Khan	00467540
0000352751	hearing loss	-	severe hearing loss	Unknown	-	-	-	-	Hina Khan	00467541
0000352752	hearing loss	-	severe hearing loss	Familial, autosomal dominant	-	-	-	-	Hina Khan	00467542
0000352753	hearing loss	-	severe hearing loss	Unknown	-	-	-	-	Hina Khan	00467543
0000352754	hearing loss	-	moderate-severe hearing loss	Unknown	-	-	-	-	Hina Khan	00467544
0000352755	hearing loss	-	severe hearing loss	Unknown	-	-	-	-	Hina Khan	00467545
0000352756	hearing loss	-	severe hearing loss	Unknown	-	-	-	-	Hina Khan	00467546
0000352757	hearing loss	-	moderate-severe hearing loss	Unknown	-	-	-	-	Hina Khan	00467547

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Global Variome shared LOVD

DICER1 (dicer 1, ribonuclease type III)