Phenotypes for disease #05217 (NDHSAL (neurodevelopmental disorder with hypotonia, seizures, absent language (NDHSAL)), OMIM:617268)

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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

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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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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>=	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
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>=	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

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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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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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8 entries on 1 page. Showing entries 1 - 8.

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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
0000074195	developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, no seizures, repetitive hand movements, self-injurious behaviours, cortical visual impairment, MRI-brain normal, gastrointestinal requires burping regularly, slightly large ears, upturned nose with bulbous nasal tip	-	-	Isolated (sporadic)	00y18m	-	-	-	-	Johan den Dunnen	00095912
0000074196	developmental delay (HP:0001263), intellectual disability (HP:0001249), hypotonia (HP:0001252), sit unable, infantile spasms starting ∼5 m (few months seizure free), rno abnormal behaviours, cortical visual impairment, MRI-brain cerebral atrophy, thin corpus callosum, G-tube fed, sparse eyebrows, slightly depressed nasal bridge, upturned nasal tip, hyperglutaminaemia, scrotal hypoplasia, pectus excavatum	-	-	Isolated (sporadic)	03y	-	-	-	-	Johan den Dunnen	00095913
0000074197	developmental delay (HP:0001263), intellectual disability (HP:0001249), no autism (-HP:0000717), hypotonia (HP:0001252), sit unable, walk unable, EEG multifocal and generalised epileptiform and slow spike-wave discharges with diffuse background slowing, self-stimulatory rocking, sucking on fingers, choreiform movements, optic atrophy, cortical visual impairment, MRI-brain progressive cerebral atrophy with mild cerebellar loss, atrophy of visual pathways, several small arachnoid cysts G-tube fed, gastroparesis, constipation, hypotonic facies, highly arched palate, gracile bones, mild osteopenia throughout with no definite dysplasia, cardiomyopathy started prenatally, heart block, prolonged QT interval	-	-	Isolated (sporadic)	06y	-	-	-	-	Johan den Dunnen	00095914
0000074198	developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night	-	-	Isolated (sporadic)	00y33m	-	-	-	-	Johan den Dunnen	00095911
0000074199	developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night	-	-	Isolated (sporadic)	00y33m	-	-	-	-	Johan den Dunnen	00095910
0000074200	developmental delay (HP:0001263), intellectual disability mild (HP:0001256, IQ=55), autism (HP:0000717), hypotonia (HP:0001252), sit 12m, walk 3y (with braces), talk 2y (few words), EEG excessive slowing with abnormal burst discharges, self-stimulatory behaviour, no visual problems, MRI-brain normal, no gastrointestinal problems, flat nasal bridge, mild epicanthal folds, telecanthus, thick eyebrows, synophrys, short, upturned nose with bulbous nasal tip, midface hypoplasia, full lower lip, widely spaced teeth, tongue protrusion, thick supraorbital ridge, deep set eyes, mouth is wide and down turned, prominent central incisors, joint laxity in knees, ankles, pain insensitivity	-	-	Isolated (sporadic)	09y	-	-	-	-	Johan den Dunnen	00095909
0000074201	developmental delay moderate (HP:0001263), intellectual disability (HP:0002342), autism (HP:0000717), hypotonia (HP:0001252), sit 9m, walk 3y, 5y-generalised tonic clonic seizures (now seizure free), hand flapping, self-injurious behaviours, aggressive behaviour, inappropriate laughter, wide-based gait, exercise intolerance, strabismus, gastro-oesophageal reflux disease, constipstion, MRI-brain normal, midface retrusion, thin vermillion upper lip	-	-	Isolated (sporadic)	11y	-	-	-	-	Johan den Dunnen	00095908
0000226949	-	Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	Familial, autosomal recessive	07y?	07y?	?	HP:0000750, HP:0007185, HP:0007240, HP:0003270, HP:0007270, HP:0008936, HP:0000408, HP:0008619,	-	Ehsan Razmara	00299639

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Global Variome shared LOVD