Phenotypes for disease #00808 (Growth retardation with deafness and mental retardation due to IGF1 deficiency, OMIM:608747)

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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

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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9 entries on 1 page. Showing entries 1 - 9.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000059443	insulin-like growth factor I deficiency; bone age 1.2y delayed; no conspicuous features of Laron syndrome	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00079732
0000059453	insulin-like growth factor I deficiency, Laron syndrome; typical features of GH deficiency at the age of 6. After 5 days of GH treatment there was no increase in the plasma IGF-1 level. At the age of 8.10y showed no serum GH binding protein activity	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00079742
0000059458	severe pre- and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; mild myopia; behavioral difficulties, hyperactivity, short attention span; no skeletal abnormalities; micrognathia, bilateral ptosis,; low hearline, bilateral clinodactyly, single palmar crease,	-	-	Familial, autosomal recessive	-	-	-	-	-	Hermine van Duyvenvoorde	00079747
0000059459	intrauterine and postnatal growth failure, sensorineural deafness, mental retardation; insulin-like growth factor I deficiency; no skeletal abnormalities	-	-	Unknown	-	-	-	-	-	Hermine van Duyvenvoorde	00079748
0000059460	severe intrauterine growth retardation, deafness, mental retardation, osteoporosis, partial gonadal dysfunction, relatively well-preserved cardiac function; insulin-like growth factor I deficiency; neurology normal; right radial fracture after minor trauma; no skeletal abnormalities; deep-set eyes, flat occiput, micrognathia; broad end phalanges, convex nails, hypermobility interphalangeal joints, restricted mobility elbows	-	-	Unknown	-	-	-	-	-	Hermine van Duyvenvoorde	00079749
0000059473	insulin-like growth factor I deficiency; neurology normal; Bilateral hearing loss, hyperlaxity of joints; Dimples in lumbar region; Triangular face, low placed posterior rotated ears, medial flaring eyebrows; Hypertelorsim, bilateral clinodactyly; delayed dentition and hypocanthal folds	-	-	Isolated (sporadic)	-	-	-	-	-	Patricia Willemse	00079762
0000059477	insulin-like growth factor I deficiency; Triangular shape of face; Small hands and feet; younger brother birth length 50cm, birth weight 3000g, height 86cm (-1.2) at 2.5 y; aunt height 128cm (-5.7), menarche at 13y; several maternal siblings died in neonatal period due to unknown causes	-	-	Familial	-	-	-	-	-	Patricia Willemse	00079766
0000059481	IGF-I level failed to increase after IGF generation test, no response to GH treatment; IGF-I therapy at 6.5y, height increased from -4.9SDS to -3.8SDS; insulin-like growth factor I deficiency; delayed bone age of 2.5y; Mild midfacial hypoplasia, depressed nasal bridge; Moderate frontal bossing, small hands	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00079770
0000079008	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Hermine van Duyvenvoorde	00079751

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Global Variome shared LOVD