Phenotypes for disease #05470 (PVNH (periventricular nodular heterotopia))

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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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23 entries on 1 page. Showing entries 1 - 23.

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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
0000229684	periventricular nodular heterotopia	PVNH7	severe neurodevelopmental delay, seizures, hypospadias, MRI revealed bilateral periventricular nodular heterotopia and perisylvian polymicrogyria	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00276082
0000229685	periventricular nodular heterotopia	PVNH7	severe neurodevelopmental delay, refractory seizures, bilateral periventricular nodular heterotopia, perisylvian polymicrogyria	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00276083
0000231951	-	-	Enlarged cisterna magna Emphysema	Familial, X-linked dominant	14y	-	-	-	-	Laura Tanner	00306103
0000231955	-	-	Seizure Enlarged cisterna magna	Familial, X-linked dominant	14y	-	14y	-	-	Laura Tanner	00306114
0000330521	periventricular heterotopia	PVNH8	developmental delays, speech delay, seizures; OFC 15y-5th centile, weight 20th centile, height 3th centile, spasticity, regressed in language abilities., MRI brain delay in myelination, cortical thinning, vermis atrophy	Isolated (sporadic)	15y	-	-	-	-	Johan den Dunnen	00440609
0000330522	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; not walking; speech delay, 5-6y-first words; severe intellectual disability; normal behaviour; 3y-focal seizures with impaired awareness, absences; hypotonia, spasticity; stereotypies; MRI brain 2m-short dysplastic corpus callosum; Retrocerebellar cyst and possble small vermis; cerebral atrophy; looks microcephalic, low frontal hair line, full eyebrows, high palate, gingival hyperplasia; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; grey hairs, irritated skin on face (because of touching mouth and face continously, dissapears when hands are restricted); normal endocrine system; no sleep disturbance; Scoliosis	Isolated (sporadic)	7y	-	-	-	-	Johan den Dunnen	00440610
0000330523	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; 18m-walk; speech delay, 24m-first words; mild intellectual disability; attention deficit hyperactivity disorder; 3y11m-one tonic-clonic seizure; EEG abnormal due to focal slowing over the right frontoventral temporal region; no hypotonia, no spasticity, no ataxia; MRI brain 3y11m-thin corpus callosum, no splenium; possible focal cortical malformation (L central sulcus and precentral gyrus), no evidence of pachygyria.; morphology normal; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance	Isolated (sporadic)	3y	-	-	-	-	Johan den Dunnen	00440611
0000330524	periventricular nodular heterotopia	PVNH8	no microcephaly; growth delay; motor delay; no walk yet; speech delay, no speech; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 2y-periventricular nodular heterotopia, thin corpus callosum; prominent forehead, pointed chin; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; bowel constipation; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Sprengel deformity both sides, hypermobility of joints	Isolated (sporadic)	16m	-	-	-	-	Johan den Dunnen	00440612
0000330525	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; 22m-23m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder; 12m-focal seizure; EEG focal epileptic discharges, slow background cerebral activity for age; hypotonia, spasticity; MRI brain 2m-thin corpus callosum; slender nasal bridge, small mouth, bilateral 5th clinodactyly; no hearing loss; mild astigmatism; small patent foramen ovale; rnormal espiratory system; used to be extremely constipated; coronal hypospadias, bilateral small kidneys; mottled skin, cold and red extremities, hyperkeratotic skin on hands, hair unruly, central frontal whorl; normal endocrine system; no sleep disturbance;	Isolated (sporadic)	4y	-	-	-	-	Johan den Dunnen	00440613
0000330526	periventricular nodular heterotopia	PVNH8	microcephaly; 2y-walk; speech delay, 1y-first words; moderate intellectual disability; no seizures; mild hypotonia; MRI brain 13m2y-normal; looks microcephalic, no other characteristics noted; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, recurrent infections, eosinophilic esophagitis, uses G-tube for feeds in addition to feeds by mouth	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00440614
0000330527	periventricular nodular heterotopia	PVNH8	microcephaly; no growth delay; motor delay; 14m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder, anxiety, occasional aggressive behaviors; 3y-two convulsive seizures; EEG persistent diffuse activity, independent sharp waves in left parietal temporal and right central temporal regions; hypotonia; diminished balance, coordination, and core strength; MRI brain 15m/7y-periventricular nodular heterotopia; flat forehead,left exotropia, mildly upslanting palpebral fissures, Robin sequence without cleft, severe crowding clas II malocclusion of middle mixed dentition, micrognathia; left conductive hearing loss, abundant ear wax; amblyopia, exotropia; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, obstructive sleep apnea spontaneously resolved. Awakenings, poor sleep patterns, improved with klonopin.	Isolated (sporadic)	12y6m	-	-	-	-	Johan den Dunnen	00440615
0000330528	periventricular nodular heterotopia	PVNH8	microcephaly; no growth delay; motor delay; 23m-walk; speech delay, 1y-first words; intellectual disability; no seizures; no hypotonia, no spasticity, no ataxia; MRI brain thin corpus callosum, short; palpebral fissures upslanted, low-set posteriorly rotated ears, anteversed nostrils, thin upper lip, micrognathism; sensitivity to noise, normal auditory evoked potential; normal vision; rnormal espiratory system; hypospadias, vesico-renal reflux; urogenital system suction difficulties); no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance	Isolated (sporadic)	10y	-	-	-	-	Johan den Dunnen	00440616
0000330529	periventricular nodular heterotopia	PVNH8	microcephaly; no growth delay; motor delay; speech delay, noo speech yet; irritability; no seizures; EEG normal; Spasticity; myoclonus; MRI brain normal; bilateral cortical dysplasia; morphology normal; bilateral profound sensorineural hearing loss; cortical vision impairment; history of patent foramen ovale, stenosis of left pulmonary artery; stenosis of left pulmonary artery; G-tube dependent; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance	Isolated (sporadic)	16m	-	-	-	-	Johan den Dunnen	00440617
0000330530	periventricular nodular heterotopia	PVNH8	no microcephaly; growth delay; motor delay; 23m-walk; speech delay, 18m-first words; moderate intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 16m-thin corpus callosum; slight epicanthal folds, prominent forehead, short nose, anteverted nares, rounded nasal tip, flatter nasal bridge, prominent philtrum; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; persistent elevation of ALT/AST, G-tube nutrition (difficulty swallowing); normal urogenital system; no skin/hair/nail anomalies; small endocrine system; sleep disturbance, severe obstructive sleep apnea, improved by tonsillectomy, adenoidectomy, supraglottaplasty; pectus deformity of chest	Isolated (sporadic)	25m	-	-	-	-	Johan den Dunnen	00440618
0000330531	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; 27m-walk; speech delay, 2y-first words; no seizures; EEG rare bifrontal epileptiform discharges during sleep; no hypotonia, no spasticity, no ataxia; MRI brain normal; mild bilateral ptosis, widely spaced eyes, upslanted palpebral fissures, broad mouth with everted lower lip and full lips, pointed chin, retrognathia, tapered fingers; L sensorineural hearing loss (aided); myopia, prescribed glasses; no cardiac anomalies; rnormal espiratory system; elevated LFTs, 1y-liver biopsy negative cholestasis, sparse patchy lobular necroinflammatory, no sign portal inflamm, no hemochromatosis, negative staining for glycogen storage disease, normal mitochondrial; normal urogenital system; recurrent pernio-like rashes that wax and wane (erythematous papules, macules); normal endocrine system; sleep disturbance, awakenings; WGS negative for Aicardi-Goutierres genes	Unknown	2y	-	-	-	-	Johan den Dunnen	00440619
0000330532	periventricular nodular heterotopia	PVNH8	microcephaly; no growth delay; motor delay; 36m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; 4y-partial epilepsy; EEG abnormal; hypotonia; motor stereotypie; MRI brain 12y-thin corpus callosum; cerebral and cerebellar atrophy; long palpebral fissures, prominent nose, hight nasal root, short philtrum, dental malposition, microretrognathia; no hearing loss; astygmatism; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; 2 hyperchromic spots; normal endocrine system; no sleep disturbance	Isolated (sporadic)	14y	-	-	-	-	Johan den Dunnen	00440620
0000330533	periventricular nodular heterotopia	PVNH8	microcephaly; no growth delay; motor delay; 23m-walk; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder, autism, mild agression when at home; 2m-infantile spasms; EEG 4m-modified hypsarhythmia, 3y-normal; hypotonia; stereotopies; MRI brain 4m-thin corpus callosum; morphology normal; no hearing loss; hyperopia; no cardiac anomalies; rnormal espiratory system; intolerance to dairy and carbohydrates; retractile testes but otherwise Normal; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance	Isolated (sporadic)	8y	-	-	-	-	Johan den Dunnen	00440621
0000330534	periventricular nodular heterotopia	PVNH8	microcephaly; growth delay; motor delay; 34m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia, ataxia; myoclonus, stereotypies; MRI brain 2y-thin corpus callosum; cerebelar hypoplasia; blepharophimosis, low-set ears, short philtrum, retroprognatism, clinodactyly; no hearing loss; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance	Isolated (sporadic)	2y	-	-	-	-	Johan den Dunnen	00440622
0000330535	periventricular nodular heterotopia	PVNH8	microcephaly; no growth delay; motor delay; 4y-walk assisted; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder; 2y-dialeptic/focal seizure right arm, GTC; EEG abnormal; hypotonia, spasticity, ataxia; dyskinesia/dystonia; MRI brain thin corpus callosum; gyration abnormality, polymicrogyria (frontal and parietal), thin myelon, cystic structure frontal right, enlarged ventricles; high palate; previously conductive hearing loss, currently no problems; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; recurrent urinary tract infection since neonate; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, 1-3h awake during night time	Isolated (sporadic)	7y	-	-	-	-	Johan den Dunnen	00440623
0000330536	periventricular nodular heterotopia	PVNH8	microcephaly; growth delay; motor delay; 40m-walk assisted; speech delay, 2y-first words; severe intellectual disability; normal behaviour; no seizures; hypotonia, ataxia; MRI brain periventricular nodular heterotopia; microcephalic; morphology normal; no hearing loss; severe strabismus; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; short endocrine system; no sleep disturbance	Isolated (sporadic)	3y10m	-	-	-	-	Johan den Dunnen	00440624
0000330537	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; 26m-walk; speech delay; moderate intellectual disability; no seizures; mild hypotonia, ataxia; waddling gait; MRI brain periventricular nodular heterotopia; high forhead, hypertelorism, anteverted nares, narrow downslanted palpebral fissures; hearing loss; normal vision; interventricular communication; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; polyneuropathy	Isolated (sporadic)	13y	-	-	-	-	Johan den Dunnen	00440625
0000330538	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; 3y-no walk; speech delay, no speech; intellectual disability; normal behaviour, no aggression, no self-injury; 3m-infantile spasms, later absence, "drop attacks"; EEG left sided temporal changes, hypsarrhythmia; mild hypotonia, spasticity; No; MRI brain 2y-normal; mild supratentorial volume loss, significant cerebellar volume loss; long, down-slanting palpebral fissures, epicanthal folds, ectropion bilaterally, long lashes, medially sparse but well- arched eyebrows, depressed nasal bridge, pointed chin, tapered fingers, fetal pads; no hearing loss; nystagmus, cortical visual impairment; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, G-tube in place, frequent vomiting; cryptorchidism; inverted nipple, sacral dimple; normal endocrine system; <3y-poor sleeper; Parents noted he is quite sweaty, social (laughs, smiles)	Isolated (sporadic)	3y2m	-	-	-	-	Johan den Dunnen	00440626
0000330539	periventricular nodular heterotopia	PVNH8	no microcephaly; no growth delay; motor delay; 24m-walk; speech delay, 18m-first words; mild intellectual disability; attention deficit hyperactivity disorder, autism, irritability and aggression, impulsive behaviors; 6m-febrile seizure, 7y-nonfebrile seizure; EEG presence of intermittent generalized slowing; no hypotonia, no spasticity, no ataxia; No; MRI brain 8y-normal; significant cerebellar volume loss; 1.9mm pineal region cysts; dental malocclusion, high arched palate, pes planus; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Tonsilectomy due to frequest choking episodes.	Isolated (sporadic)	8y	-	-	-	-	Johan den Dunnen	00440627

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Global Variome shared LOVD

SLC6A1-AS1 (SLC6A1 antisense RNA 1)