Phenotypes for disease #04275 (ICF3 (immunodeficiency-centromeric instability-facial anomalies syndrome, type 3 (ICF-3)))

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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

Birth/Weight: weight at birth (in kg, with SD)

Infections: does the patient have (recurrent) infections; please specify (tissue, agent, etc.)
All options:

yes = (recurrent) infections (HP:0002719, +)
no = no (recurrent) infections (-)
recurrent due to aspiration (HP:0004891)
recurrent in infancy/early childhood (HP:0005437)
bronchopulmonaryrecurrent (HP:0006538)
CNS (HP:0011450)
cutaneous fungal recurrent (HP:0011370)
gastrointestinal tract recurrent (HP:0004798)
nail monilial chronic (HP:0008396)
pneunomia recurrent (HP:0006532)
respiratory recurrent (HP:0002205)
respiratory tract (HP:0011947)
respiratory tract acute (HP:0011948)
respiratory tract upper and lower recurrent (HP:0200117)
respiratory tract lower recurrent (HP:0002783)
respiratory tract upper recurrent (HP:0002788)
sinopulmonary recurrent (HP:0005425)
skin recurrent (HP:0001581)
skin bacterial recurrent (HP:0005406)
skin viral recurrent (HP:0011371)
urinary tract recurrent (HP:0000010)
vulvovaginal candidiasis recurrent (HP:0012204)
recurrent Aspergillus (HP:0002724)
recurrent bacterial (HP:0002718)
recurrent bacterial gram-negative (HP:0005420)
recurrent Burkholderia cepacia (HP:0002842)
recurrent candida (HP:0005401)
recurrent E. coli (HP:0002740)
recurrent enteroviral (HP:0002743)
recurrent fungal (HP:0002841)
recurrent Haemophilus influenzae (HP:0005376)
Heliobacter pylori (HP:0005202)
recurrent Klebsiella (HP:0002742)
recurrent meningococcal disease (HP:0005381)
recurrent mycobacterial (HP:0011274)
recurrent mycobacterium avium complex (HP:0011275)
recurrent Neisserial (HP:0005430)
recurrent opportunistic infections (HP:0005390)
recurrent protozoan infections (HP:0005386)
recurrent Serratia marcescens (HP:0002741)
recurrent Staphylococcal (HP:0007499)
recurrent Staphylococcus aureus (HP:0002726)
recurrent Streptococcus pneumoniae (HP:0005366)
recurrent systemic pyogenic (HP:0005429)
recurrent viral (HP:0004429)
recurrent viral severe (HP:0005364)
? = unknown
n/a = not analysed

Protein: result from protein staining

Development: individual has developmental (psychomotor) delay; please specify (global, cognitive, language/speech, mental, motor, social/emotional)
All options:

global = global developmental delay (+, HP:0001263)
global mild = mild global developmental delay (HP:0011342)
global moderate = moderate global developmental delay (HP:0011343)
global profound = profound global developmental delay (HP:0012736)
global severe = severe global developmental delay (HP:0011344)
motor = motor delay (HP:0001270)
no motor = no motor delay (HP:0001270)
motor fine = delay fine motor development (HP:0010862)
motor gross = delay gross motor development (HP:0002194)
neurodevelopmental = neurodevelopmental delay (HP:0012758)
regression = developmental regression (HP:0002376)
stagnation = developmental stagnation (HP:0007281)
stagnation seizures = developmental stagnation at onset seizures (HP:0006834)
social = delayed social development (HP:0012434)
speech/language = delayed speech/language development (HP:0000750)
no = no developmental delay (-)
? = unknown
n/a = not analysed

Intellectual_dis: individual has intellectual disability (intellectual disability (mental retardation), HP:0001249,mental retardation); please specify
All options:

yes = intellectual disability (HP:0001249, IQ below 70)
borderline = intellectual disability, borderline (HP:0006889, IQ 70-79)
mild = intellectual disability, mild (HP:0001256, IQ 50-69)
moderate = intellectual disability, moderate (HP:0002342, IQ 35-49)
profound = intellectual disability, profound (HP:0002187, IQ below 20)
severe = intellectual disability, severe (HP:0010864, IQ 20-34)
progressive = intellectual disability, progressive (HP:0006887)
no = no intellectual disability (IQ above 79, -)
? = unknown
n/a = not analysed

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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	Birth/Weight	Infections	Protein	Development	Intellectual_dis	Owner	Individual ID
0000029118	facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia); IgG 2.8 g/l, IgA <0.04 g/l, IgM 0.23 g/l; cytogenetic abnormalities include stretching, multiradial configuration	-	-	Isolated (sporadic)	-	-	-	-	1960g	yes	-	motor	yes	Peter Thijssen	00038729
0000029119	facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, myocarditis, peritonitis); IgG 0.31 g/l, IgA 0.05 g/l, IgM <0.06g/l	-	-	Isolated (sporadic)	-	-	-	-	730G	-	-	motor	yes	Peter Thijssen	00038730
0000029120	no facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, mastoiditis, meningitis); IgG 2 g/l, IgA 0.27 g/l, IgM 0.25 g/l; cytogenetic abnormalities include stretching	-	-	Isolated (sporadic)	-	-	-	-	1820g	yes	-	?	no	Peter Thijssen	00038732
0000029121	facial anomalies (HP:0001999), no gastrointestinal problems, infections (otitis); IgG 2.32 g/l, IgA <0.07 g/l, IgM 0.03 g/l; cytogenetic abnormalities include stretching, breaking, decondensation	-	-	Familial, autosomal recessive	-	-	-	-	2800g	yes	-	no motor	no	Peter Thijssen	00038733
0000029122	facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (pneumonia, candida); IgG 1.11 g/l, IgA 0.06 g/l, IgM 0.04 g/l	-	-	Familial, autosomal recessive	-	-	-	-	2250g	yes	-	no motor	no	Peter Thijssen	00038734

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Global Variome shared LOVD

ZSCAN23 (zinc finger and SCAN domain containing 23)