Information on subject 103076

Basic details

Sex: Female

Country: Oman

Population: Omani

Family ID: 215099

Father: 103108

Mother: 103106

Consanguinity: Yes

Clin. status: Affected

Age of death: 3.0

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
SCBMS	Seizures, cortical blindness, microcephaly syndrome	AR	3.00	0.01

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
DIAPH1	F923Lfs*4	EX21	c.2769del	p.Phe923LeufsTer4	frameshift_variant	Pathogenic	HOM	Yes, alone

Age	Sign/Symptom	Present?	Severity	Presentation
3.00	Decreased IgA levels	No
3.00	Decreased IgG levels	No
3.00	Decreased IgM levels	No
2.00	Reduced number of B cells	Yes
2.00	Neutropenia	Yes
2.00	Reduced proportion of naive CD4 T cells	Yes
3.00	Increased proportion of effector mem. CD8 T cells	Yes
3.00	Reduced proportion of CD4 T cells	Yes
2.00	Reduced proportion of naive CD8 T cells	Yes
0.17	Seizures	Yes	severe	recurrent
3.00	B-cell lymphoma	Yes	severe	acute
2.00	Thrombocytopenia	Yes
Unk.	Gastroesophageal reflux	Yes	mild
2.00	Lymphopenia	Yes
2.00	Anemia	Yes
3.00	(unusual) Epstein-Barr virus infection	Yes
2.00	Hepatomegaly	Yes
3.00	(unusual) Cytomegalovirus infection	Yes
2.00	Cervical lymphadenopathy	Yes		chronic
2.00	Elevated C-reactive protein	Yes
3.00	Increased proportion of effector mem. CD4 T cells	Yes
Unk.	Muscular hypotonia	Yes
0.01	Progressive microcephaly	Yes	severe
Unk.	Optic atrophy	Yes
Unk.	Global developmental delay	Yes
0.01	Intellectual disability, profound	Yes	severe
3.00	Immunodeficiency	Yes
2.00	Decreased serum complement C3	Yes
Unk.	Brain atrophy	Yes
2.00	Decreased lymphocyte proliferation in response to mitogens	Yes
Unk.	Cerebral visual impairment	Yes

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
3.00	B cells			1.00	17.00 - 26.00	Low
3.00	Effector memory CD4 T cells			77.00	19.90 - 52.40	High
3.00	Effector memory CD4 TEMRA			2.00	1.40 - 17.00	Normal
3.00	Effector memory CD8 TEMRA			24.00	4.50 - 33.70	Normal
3.00	Effector memory CD8 T cells			75.00	14.60 - 63.00	High
3.00	central memory CD8 T cells			1.00	1.20 - 7.30	Low
3.00	Naive CD8+ T cells			1.00	18.80 - 71.00	Low
3.00	naive CD4 T cells			1.00	20.50 - 54.80	Low
3.00	CD4 T cells	50	404 - 1612			Low
3.00	CD8 T cells	440	220 - 1129			Normal
3.00	Neutrophils	700	4500 - 13500			Low
3.00	NK cells	70	84 - 724			Low
3.00	Lymphocytes	480	1200 - 3500			Low
3.00	T cells	470	742 - 2750			Low
3.00	central memory CD4 T cells			20.00	8.40 - 32.80	Normal

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
3.00	IgA	58	10 - 180 mg/dL	Normal
3.00	IgG	700	230 - 1310 mg/dL	Normal
3.00	IgM	402	20 - 190 mg/dL	High

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* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.

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* Compared to WT controls
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