Phenotypes for disease #05421 (microcephaly (microcephaly))

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Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

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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437 entries on 5 pages. Showing entries 1 - 100.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000155661	microcephaly	MOPD-1	see paper; ...	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00207877
0000203078	microcephaly	autosomal recessive primary microcephaly-15	-	Familial, autosomal recessive	?	11y?	?	-	-	Ehsan Razmara	00265259
0000218894	Microcephaly	-	-	Unknown	-	-	-	-	-	Julia Lopez	00282809
0000227249	-	-	-	Isolated (sporadic)	-	-	-	-	-	Juliette Godin	00299928
0000232947	Warburg Micro syndrome	Warburg Micro syndrome type 1	HP:0000519 HP:0007970 HP:0009062 HP:0001257 HP:0100022 HP:0001273 HP:0001344 HP:0006808 HP:0010864 HP:0002063 HP:0001257 HP:0003868 HP:0003928 HP:0002944 HP:0000175 HP:0000028 HP:0000998 HP:0003868 HP:0000369 HP:0003928	Familial, autosomal recessive	05y	05y	00y06m?	-	-	Ehsan Razmara	00307139
0000239709	syndromic microcephaly	-	microcephaly, facial dysmorphism, nasal bridges, eczema, epilepsy, short stature, global developmental delay	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315964
0000239710	syndromic microcephaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315965
0000239711	syndromic microcephaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315966
0000239712	syndromic microcephaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315967
0000239713	syndromic microcephaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315968
0000239714	syndromic microcephaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315969
0000239715	syndromic microcephaly	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00315970
0000323850	primary microcephaly	-	primary microcephaly, short stature	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433329
0000323851	microcephaly	-	primary microcephaly	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433330
0000323852	microcephaly	-	primary microcephaly	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433331
0000323853	primary microcephaly	-	primary microcephaly; birth OFC (SD-2.5), weigth (SD-3), length (SD-3); OFC (SD-2.5), weigth (SD-1), length (SD-1.5); no epilepsy; SON‐IQ67 (5y6m) (SON‐R); MRI normal; birth OFC (SD-2.5), weigth (SD-3), length (SD-3); OFC (SD-2.5), weigth (SD-1), length (SD-1.5); no epilepsy; SON‐IQ67 (5y6m) (SON‐R); MRI normal	Unknown	17y	-	-	-	-	Johan den Dunnen	00433332
0000323854	primary microcephaly	-	primary microcephaly, progressive spasticity; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles	Familial, autosomal recessive	5y2m	-	-	-	-	Johan den Dunnen	00433333
0000323855	primary microcephaly	-	primary microcephaly, pyramidal syndrome; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia; birth OFC (SD-6), weigth (SD1), length (SD-2); OFC (SD-7), weigth median, length median; no epilepsy; DQ42 (3y11m) (Brunet‐Lezine revised scale); MRI simplified pattern posterior, agenesis corpus callosum, enlarged left ventricle, focal parietal cortical dysplasia	Familial, autosomal recessive	3y	-	-	-	-	Johan den Dunnen	00433334
0000323856	primary microcephaly	-	primary microcephaly; OFC (SD-10), weigth (SD-1.5), length (SD-0.5); no epilepsy; OFC (SD-10), weigth (SD-1.5), length (SD-0.5); no epilepsy	Familial, autosomal recessive	9y	-	-	-	-	Johan den Dunnen	00433335
0000323857	primary microcephaly	-	primary microcephaly; birth OFC (SD-3), weigth (SD-0.5), length median; OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; IQ64 (5y10) (WPPSI‐R); birth OFC (SD-3), weigth (SD-0.5), length median; OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; IQ64 (5y10) (WPPSI‐R)	Familial, autosomal recessive	9y6m	-	-	-	-	Johan den Dunnen	00433336
0000323858	primary microcephaly	-	primary microcephaly; OFC (SD-8), weigth (SD-1.5), length (SD-1); no epilepsy; IQ30 (20y) (Terman‐Merrill); OFC (SD-8), weigth (SD-1.5), length (SD-1); no epilepsy; IQ30 (20y) (Terman‐Merrill)	Familial, autosomal recessive	20y	-	-	-	-	Johan den Dunnen	00433337
0000323859	primary microcephaly	-	primary microcephaly, closed fontanelles before birth; birth OFC (SD-2), weigth (SD1), length median; no epilepsy; birth OFC (SD-2), weigth (SD1), length median; no epilepsy	Familial, autosomal recessive	NA	-	-	-	-	Johan den Dunnen	00433338
0000323860	primary microcephaly	-	primary microcephaly; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal	Familial, autosomal recessive	15y	-	-	-	-	Johan den Dunnen	00433339
0000323861	primary microcephaly	-	primary microcephaly; OFC (SD-8), weigth (SD-0.5), length (SD-0.5); no epilepsy; moderate/severe intellectual disability; MRI normal; OFC (SD-8), weigth (SD-0.5), length (SD-0.5); no epilepsy; moderate/severe intellectual disability; MRI normal	Familial, autosomal recessive	10y	-	-	-	-	Johan den Dunnen	00433340
0000323862	primary microcephaly	-	primary microcephaly; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD+0.5), length median; OFC (SD-5.5), weigth (SD-1.5), length (SD-1); 3y-generalized, tonic‐clonic, no treatment; IQ50 (6y) (Mc Carthy); MRI simplified pattern	Familial, autosomal recessive	14y	-	-	-	-	Johan den Dunnen	00433341
0000323863	primary microcephaly	-	primary microcephaly; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern	Familial, autosomal recessive	4y6m	-	-	-	-	Johan den Dunnen	00433342
0000323864	primary microcephaly	-	primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-1); OFC (SD-4), weigth (SD-2.5), length (SD-3.5); no epilepsy; MRI suspicion of dysplasia; birth OFC (SD-2.5), weigth (SD-1), length (SD-1); OFC (SD-4), weigth (SD-2.5), length (SD-3.5); no epilepsy; MRI suspicion of dysplasia	Familial, autosomal recessive	16y	-	-	-	-	Johan den Dunnen	00433343
0000323865	primary microcephaly	-	primary microcephaly, short stature; OFC (SD-7), weigth (SD-2), length (SD-3.5); no epilepsy; moderate/severe intellectual disability; OFC (SD-7), weigth (SD-2), length (SD-3.5); no epilepsy; moderate/severe intellectual disability	Familial, autosomal recessive	19y	-	-	-	-	Johan den Dunnen	00433344
0000323866	primary microcephaly	-	primary microcephaly, short stature; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal	Familial, autosomal recessive	9y	-	-	-	-	Johan den Dunnen	00433345
0000323867	primary microcephaly	-	primary microcephaly; birth OFC (SD-3.5), weigth (SD-1), length (SD-2); OFC (SD-6), weigth median, length (SD-1); no epilepsy; severe intellectual disability (45y-began to speak, 12y-not able to wash herself, recognizes some letters, count to 5); MRI small cerebellum hemispheres; birth OFC (SD-3.5), weigth (SD-1), length (SD-2); OFC (SD-6), weigth median, length (SD-1); no epilepsy; severe intellectual disability (45y-began to speak, 12y-not able to wash herself, recognizes some letters, count to 5); MRI small cerebellum hemispheres	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00433346
0000323868	primary microcephaly	-	primary microcephaly, short stature; birth OFC (SD-2.5), weigth (SD+0.5), length (SDNA); OFC (SD-8), weigth (SD-3), length (SD-2.5); no epilepsy; IQ35 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD+0.5), length (SDNA); OFC (SD-8), weigth (SD-3), length (SD-2.5); no epilepsy; IQ35 (Terman‐Merill); MRI simplified pattern	Familial, autosomal recessive	18y	-	-	-	-	Johan den Dunnen	00433347
0000323869	primary microcephaly	-	severe primary microcephaly, short stature; OFC (SD-8), weigth (SD-2), length (SD-3.5); 24y-generalized, tonic‐clonic, treatment LEV, TPM, and CBZ; mild/moderate intellectual disability; MRI slight cerebral and cerebellar atrophy, agenesis corpus callosum, colpocephaly; OFC (SD-8), weigth (SD-2), length (SD-3.5); 24y-generalized, tonic‐clonic, treatment LEV, TPM, and CBZ; mild/moderate intellectual disability; MRI slight cerebral and cerebellar atrophy, agenesis corpus callosum, colpocephaly	Familial, autosomal recessive	19y	-	-	-	-	Johan den Dunnen	00433348
0000323870	primary microcephaly	-	primary microcephaly; birth OFC (SD-2), weigth median, length median; OFC (SD-4), weigth (SD-2), length (SD-1.5); no epilepsy; borderline intellectual disability; MRI mild underdevelopment of frontal lobe; birth OFC (SD-2), weigth median, length median; OFC (SD-4), weigth (SD-2), length (SD-1.5); no epilepsy; borderline intellectual disability; MRI mild underdevelopment of frontal lobe	Familial, autosomal recessive	4m	-	-	-	-	Johan den Dunnen	00433349
0000323871	primary microcephaly	-	primary microcephaly, café au lait spots; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly	Familial, autosomal recessive	12y	-	-	-	-	Johan den Dunnen	00433350
0000323872	primary microcephaly	-	primary microcephaly; birth OFC (SD-2), weigth median, length median; OFC (SD-6.5), weigth (SD-1.5), length (SD-1); no epilepsy; IQ60 (Mc Carthy); birth OFC (SD-2), weigth median, length median; OFC (SD-6.5), weigth (SD-1.5), length (SD-1); no epilepsy; IQ60 (Mc Carthy)	Familial, autosomal recessive	22y	-	-	-	-	Johan den Dunnen	00433351
0000323873	primary microcephaly	-	primary microcephaly; birth OFC (SD-3), weigth (SD-1), length (SD-1.5); OFC (SD-4), length (SD1); no epilepsy; IQ87; MRI normal; birth OFC (SD-3), weigth (SD-1), length (SD-1.5); OFC (SD-4), length (SD1); no epilepsy; IQ87; MRI normal	Familial, autosomal recessive	3y6m	-	-	-	-	Johan den Dunnen	00433352
0000323874	primary microcephaly	-	Cockayne syndrome; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability; birth OFC (SD-1), weigth (SD-0.5), length (SD-0.5); OFC (SD-6), weigth (SD-3), length (SD-6); 22m-generalized, tonic‐clonic, treatment VPA; severe intellectual disability	Familial, autosomal recessive	11y	-	-	-	-	Johan den Dunnen	00433353
0000323875	primary microcephaly	-	primary microcephaly; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00433354
0000323876	primary microcephaly	-	primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern	Familial, autosomal recessive	15y	-	-	-	-	Johan den Dunnen	00433355
0000323877	primary microcephaly	-	primary microcephaly; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00433356
0000323878	primary microcephaly	-	primary microcephaly; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA	Familial, autosomal recessive	4y	-	-	-	-	Johan den Dunnen	00433357
0000323879	primary microcephaly	-	primary microcephaly, short stature, spastic quadriparesia; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum	Familial, autosomal recessive	5y	-	-	-	-	Johan den Dunnen	00433358
0000323880	primary microcephaly	-	primary microcephaly, hyperkinesia; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00433359
0000323881	primary microcephaly	-	primary microcephaly, young onset diabetes, short stature; OFC (SD-4), length (SD-3); 10y-generalized, absences, treatment VPA; intellectual disability; MRI normal; OFC (SD-4), length (SD-3); 10y-generalized, absences, treatment VPA; intellectual disability; MRI normal	Familial, autosomal recessive	26y	-	-	-	-	Johan den Dunnen	00433360
0000323882	primary microcephaly	-	primary microcephaly, axial hypotonia, visual abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities	Unknown	4y6m	-	-	-	-	Johan den Dunnen	00433361
0000323883	primary microcephaly	-	primary microcephaly, fluctuant neutropenia, truncal obesity, retinal dystrophy, joints hyperlaxity; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal; birth OFC (SD-2), weigth (SD-2.5), length (SD-3); OFC (SD-4), weigth (SD-1), length (SD-4); no epilepsy; severe intellectual disability, no speech; MRI normal	Familial, autosomal recessive	15y5m	-	-	-	-	Johan den Dunnen	00433362
0000323884	primary microcephaly	-	primary microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-2), length (SD-0.5); OFC (SD-5), weigth (SD-2), length (SD+0.5); 2y-generalized, tonic‐clonic., refractory under VPA and CMZ +gamma‐globulins; severe intellectual disability; MRI lissencephaly, pachygyria	Familial, autosomal recessive	26y	-	-	-	-	Johan den Dunnen	00433363
0000323885	primary microcephaly	-	primary microcephaly; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria; birth OFC (SD-2), weigth (SD-1), length (SDNA); OFC (SD-4), weigth (SD1), length (SD-0.5); no epilepsy; MRI lissencephaly, pachygyria	Familial, autosomal recessive	6y	-	-	-	-	Johan den Dunnen	00433364
0000323886	primary microcephaly	-	primary microcephaly; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal; OFC (SD-5), weigth (SD-0.5), length (SD-1); no epilepsy; moderate intellectual disability (IQ65 in Turkey); MRI normal	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00433365
0000323887	primary microcephaly	-	primary microcephaly; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00433366
0000323888	primary microcephaly	-	severe primary microcephaly, hearing deficiency; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal	Familial, autosomal recessive	28y	-	-	-	-	Johan den Dunnen	00433367
0000323889	primary microcephaly	-	primary microcephaly; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern; birth OFC (SD-2), weigth median, length (SD1); OFC (SD-3), weigth (SD+1.5), length (SD3); g4y-eneralized, absences, treatment VPA; moderate intellectual disability; MRI simplified pattern	Familial, autosomal recessive	5y6	-	-	-	-	Johan den Dunnen	00433368
0000323890	primary microcephaly	-	primary microcephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly	Familial, autosomal recessive	9y	-	-	-	-	Johan den Dunnen	00433369
0000323961	primary microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433498
0000323962	microcephaly	MCPH7	microcephaly, mild intellectual disability	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433501
0000323963	microcephaly	MCPH5	microcephaly, moderate–severe intellectual disability	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433502
0000323965	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433508
0000323966	microcephaly	MCPH5	see paper; ..., microcephaly, anterior predominant pachygyria	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433509
0000323967	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433510
0000323968	microcephalic intellectual deficit	MCPH5	moderate-severe intellectual disability, congenital microcephaly [OFC 42.5 cm (-7.8 SD), height 182 cm (75-90th percentile); not able to read, able to write name; MRI brain global reduction brain size, thin brain stem, normal corpus callosum, normal temporal pachygiria; cardiac ultrasound mild tricuspid valve insufficiency	Familial, autosomal recessive	29y	-	-	-	-	Johan den Dunnen	00433511
0000323969	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433512
0000323970	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433516
0000323971	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433517
0000323972	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433518
0000323973	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433519
0000323974	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433520
0000323975	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433521
0000323976	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433522
0000323977	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433523
0000323978	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433524
0000323979	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433525
0000323980	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433526
0000323981	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433527
0000323982	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433528
0000323983	microcephaly	MCPH5	microcephaly, severe intellectual disability	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433529
0000323984	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433530
0000323985	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433531
0000323986	microcephaly	MCPH5	see paper	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433532
0000323987	microcephaly	MCPH5	microcephaly, severe intellectual disability	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433533
0000323988	microcephaly	MCPH5	microcephaly, severe intellectual disability	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433534
0000323989	microcephaly	MCPH5	microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional, self-injurious behavior, 19m-walked; says meaningful sentences, can relate experiences, can name few objects; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter	Familial, autosomal recessive	08y	-	-	-	-	Johan den Dunnen	00433546
0000323990	microcephaly	MCPH5	microcephaly; shy, drawn; 12m-walk; talks in two-word phrases, can name familiar objects, follows two- to three-step instructions; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter	Familial, autosomal recessive	04y	-	-	-	-	Johan den Dunnen	00433547
0000323991	microcephaly	MCPH5	microcephaly; sociable, low frustration tolerance, hyperactive, occasional self-injurious behavior, 18m-walk; talks in short meaningful sentences, can name family members/objects; partly take care of self, no reading or writing skills; sloping forehead, narrow bifrontal diameter	Familial, autosomal recessive	08y	-	-	-	-	Johan den Dunnen	00433548
0000323992	microcephaly	MCPH5	microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional self-injurious behavior; 9m-walk; no speech; can follow simple instructions such as give or take; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter	Familial, autosomal recessive	06y	-	-	-	-	Johan den Dunnen	00433549
0000323993	microcephaly	MCPH5	microcephaly; sociable, low frustration tolerance, aggressive tantrums, hyperactive, occasional self-injurious behavior; 18m-walk; no speech; can follow simple instructions such as give or take; cannot take care of self; sloping forehead, narrow bifrontal forehead	Familial, autosomal recessive	02y	-	-	-	-	Johan den Dunnen	00433550
0000324015	microcephaly	MCPH5	microcephaly; moderate intellectual disability, sloping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433572
0000324016	microcephaly	MCPH5	microcephaly; moderate intellectual disability, sliding head, flat occiput	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433573
0000324017	microcephaly	MCPH5	microcephaly; mild intellectual disability; sliding head	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433574
0000324018	microcephaly	MCPH5	microcephaly; mild/moderate intellectual disability, sharply slopping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433575
0000324019	microcephaly	MCPH5	microcephaly; mild/moderate intellectual disability, sloping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433576
0000324020	microcephaly	MCPH5	microcephaly; moderate intellectual disability; sharply sloping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433577
0000324021	microcephaly	MCPH5	microcephaly; moderate intellectual disability; sharply sloping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433578
0000324022	microcephaly	MCPH5	microcephaly; moderate intellectual disability; sharply sloping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433579
0000324023	microcephaly	MCPH5	microcephaly; moderate intellectual disability; sharply sloping forehead	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433580
0000324024	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433590
0000324025	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433591
0000324026	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433592
0000324027	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433593
0000324028	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433594
0000324029	microcephaly	MCPH5	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00433595

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Global Variome shared LOVD