Phenotypes for disease #00393 (MCPH1 (microcephaly, type 1, primary, autosomal recessive (MCPH-1)), OMIM:251200)

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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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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

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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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5 entries on 1 page. Showing entries 1 - 5.

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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
0000015246	Seizure Onset One hour after birth, Profound delays, cortical visual impairment, normal hearing, chronic constipation, tracheomalacia, possible tapetoretinal degeneration as seen in Leber's congential amaurosis, no meaningful visual response in either eye, nutrition by Gtube. Mixed hypotonia and hypertonia. Sloping forehead, bitemporal narrowing, hypotelorism, bilateral epicanthal folds, broad flat nasal bridge, high arched palate. At age 5 months skin exam with slightly raised red rash across his chest and abdomen. Microcephaly -4.8SD at 1.5 months; -10.4SD at 21months	-	-	Familial, autosomal recessive	04y	-	-	-	-	Marianne Vos (LOVD-team)	00016844
0000015247	Seizure onset first day of life (frequent, recurring, longlasting), Profound delays, no constipation, can bubble, nystagmus, nutrition by Gtube. High muscle tone with brisk reflexes. Less of sloping forehead than brother, has bitemporal narrowing, epicanthal folds, hyptelorism, low set and posteriorly rotated ears, broad nasal bridge, high palate. Unremarkable skin exam. Microcephaly -5.8SD at 3 months; -7.8SD at 7 months. 2y:period of illness during which he was reported to have episodes characterized by sudden onset of constant kicking and thrashing, dehydration, pneumonia, and rhabdomyolysis with a peak creatine kinase level of >7,000 u/l, lasting 2m; 3y: similar period lasting 8m.	-	-	Familial, autosomal recessive	03y	-	-	-	-	Marianne Vos (LOVD-team)	00016845
0000015248	born at 41w of gestation after uneventful pregnancy. At birth, he showed an OFC at 1 SD, normal body weight (tenth percentile), and normal height (51st percentile). Seizures 1st hour of life consisted clonic movements of the right hemiface and lower limbs, drooling, and cyanosis. Seizures were polymorphic, long lasting, and harmacoresistant. Ictal EEG showed a ‘‘migrating’’ pattern consistent with migrating partial seizures in infancy. He showed global hypotonia and lack of visual interaction. ;5.5y: profound psychomotor delay, microcephaly (3 SDs), active epilepsy with weekly seizures that were resistant to antiepileptic drugs (AEDs). Dysmorphisms: Coarse facies, hypoplastic helix of ear and prominent upper lip.	-	-	Familial, autosomal recessive	04y	-	-	-	-	Marianne Vos (LOVD-team)	00016846
0000015249	born full term after an uneventful pregnancy and delivery. OFC of 32 cm (1 SD), normal height (40th percentile), normal body weight (11th percentile). 1m: epilepsy, her first seizures were clonic with apnea and cyanosis. Clusters of focal polymorphic seizures then occurred about 2/month, were poorly controlled despite many AED trials. 5m: seizures occurred in clusters of 20–30 several times/day. Variable clinical manifestations: often mild and accompanied by eye deviation, chewing, apnea, cyanosis. Ictal EEG showed migrating focal seizures. 1y3m: head circumference below the 3d percentile, had severe hypotonia with global psychomotor delay. 3y: weekly seizures, failed to gain further developmental skills, microcephaly (2.5 SDs).	-	-	Familial, autosomal recessive	01y03m	-	-	-	-	Marianne Vos (LOVD-team)	00016847
0000027425	MCPH, mild to moderate learning difficulties; occipital head circumference (OFC) at birth: 29.5 cm (<0.4th centile); adult OFC 45.5 cm, (<0.4th centile); other body systems unaffected, overall growth normal	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00034030

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Global Variome shared LOVD

HOXC13 (homeobox C13)