Disease #00371 (MCAHS1;GPIBD3 (multiple congenital anomalies, hypotonia, seizures syndrome, type 1 (MCAHS-1, glycosylphosphatidylinositol deficiency, type 3 (GPIBD-3))), OMIM:614080)

Official abbreviation	MCAHS1;GPIBD3
Name	multiple congenital anomalies, hypotonia, seizures syndrome, type 1 (MCAHS-1, glycosylphosphatidylinositol deficiency, type 3 (GPIBD-3))
OMIM ID	614080
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	10
Phenotype entries for this disease	7
Associated with 1 gene	PIGN
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2014-04-29 22:18:09 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
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Antarctica
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Belarus
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Belgium
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Belize
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Benin
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Bhutan
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Bolivia
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
(Burkina Faso)
Burundi
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Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
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Cayman Islands
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Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
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Czech Republic
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Denmark
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Eritrea
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
(Guadeloupe)
Guam
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Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
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Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
(Ireland)
Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Mauritius
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Mayotte
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Mexico
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Moldova
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Morocco
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Panama
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Paraguay
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Peru
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Philippines
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Pitcairn
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Poland
(Poland)
Polynesia, French
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Portugal
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Puerto Rico
(Puerto Rico)
Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Singapore
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Slovakia (Slovak Republic)
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Spain
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St. Helena, Ascension and Tristan da
Cunha
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Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
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Suriname
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
(Virgin Islands (US))
Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
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

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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<	Numeric	<23	all entries lower than 23
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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10 entries on 1 page. Showing entries 1 - 10.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00016532	-	PubMed: Maydan 2011	seven affected family members	-	yes	Israel	Arabic	-	-	-	-	MCAHS1;GPIBD3	developmental delay, dysmorphic features, multiple congenital anomalies involving the cardiac, genitourinary and gastrointestinal systems; severe neurological impairment with chorea and seizures leading to early death	PIGN	PIGN	1	7	Philippe Campeau
00019965	-	PubMed: Contini 2015, Journal: Contini 2015	-	M	-	Italy	white	-	-	-	-	MCAHS1;GPIBD3, NF2	-	NF2	NF2	1	1	Laura Papi
00024935	-	PubMed: Brady 2014	affected fetus, pregnancy terminated 16w gestation; unaffected heterozygous carrier parents	-	yes	(Belgium)	Africa, north	<00y00m00d	-	-	-	MCAHS1;GPIBD3	multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, oligodactyly	PIGN	PIGN	1	1	Philippe Campeau
00024936	-	PubMed: Ohba 2014	2-generation family, 2 affected sibs (borther, sister) and unaffected heterozygous carrier parents	-	no	Japan	-	<0d	-	-	-	MCAHS1;GPIBD3	see paper; congenital anomalies, developmental delay, hypotonia, epilepsy, progressive cerebellar atrophy	PIGN	PIGN	2	2	Philippe Campeau
00155037	-	PubMed: Couser 2015	-	M	no	-	Mexican American	-	-	-	-	MCAHS1;GPIBD3	-	-	PIGN	2	1	Philippe Campeau
00155042	-	PubMed: Khayat 2016	-	F	yes	-	Israeli–Arab	-	-	-	-	MCAHS1;GPIBD3	-	-	PIGN	1	1	Philippe Campeau
00207535	Patient	PubMed: Xu et al., 2017	-	M	-	China	Chinese	>00y04m	-	-	-	MCAHS1;GPIBD3	epilepsy, hypotonia, developmental delay, accompanied by nearly normal laboratory test results	PIGN	PIGN	2	1	Philippe Campeau
00213053	Fam1_Case1	PubMed: Thuresson et al. 2018	-	F	yes	-	-	-	-	-	-	MCAHS1;GPIBD3	Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, cerebellar atrophy, increased cerebrospinal fluid spaces, visual impairment (pathological VEP), PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Microcephaly (OFC −4SD), round face, low anterior hairline, broad nasal bridge, high-arched palate, small chin, slender feet and hirsutism. Scoliosis. Dry skin, peeling on feet.	PIGN	PIGN	1	1	Philippe Campeau
00213134	Fam1, Case2	PubMed: Thuresson et al., 2018	-	M	yes	-	-	-	-	-	-	MCAHS1;GPIBD3	Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Bitemporal narrowing, broad nasal bridge, large ears, thin upper-vermillion and a smooth, long philtrum. Scoliosis. Dry skin, peeling on feet.	PIGN	PIGN	1	1	Philippe Campeau
00386391	187571	-	-	M	yes	-	Arabian	-	-	-	-	MCAHS1;GPIBD3	Omphalocele, Hydronephrosis, Echogenic fetal bowel, Increased nuchal translucency, Dextrocardia, Abnormality of ductus venosus blood flow	PIGN	PIGN	1	1	Andreas Laner

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