All individuals with variants in gene ZC4H2

42 entries on 1 page. Showing entries 1 - 42.
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00050669 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s), unaffected heterozygous carrier mother M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, talipes equinovarus, hypermetropia, stereotypic behavior 1 2 Johan den Dunnen
00050670 - PubMed: DDDS 2015, Journal: DDDS 2015 sib2 M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, talipes equinovarus, ptosis, generalized hypotonia 1 1 Johan den Dunnen
00173465 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183130 Family 1 / FamD139 PubMed: Hirata 2013, PubMed: Hu 2016 family, 6 affected males, 5 unaffected heterozygous carrier females M - Germany - - 0 - - MRX;IDX ong (flat) philtrum (HP:0000299) (1); ptosis (HP:0001488) (6); carp-shaped mouth (HP:0010806) (1); narrow shoulders or thorax (HP:0006664) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (6); distal muscle weakness (HP:0002460) (6); retardation of motor development (HP:0001263) (6); intellectual disability (HP:0001249) (6) 1 6 Johan den Dunnen
00183164 Family 5 males / FamP195 PubMed: Hirata 2013, PubMed: Hu 2016 4-generation family, 2 affected males, 2 symptomatic heterozygous carrier female M - France - - 0 - - MRX;IDX dwarfism (HP:0001516) (1); oral motor dysfunction (HP:0005216) (2); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); broad alveolar ridges (HP:0000187) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (2); short neck (with limited rotation) (HP:0000470) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); distal muscle weakness (HP:0002460) (2); ( (; retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (1); seizures (HP:0001250) (2); MRI diffuse cerebral atrophy (HP:0002283) (1) 1 4 Johan den Dunnen
00234016 Fam2 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234017 Fam3 Frints 2019, submitted family, 1 affected male, 1 affected female, healthy carrier mother (mosaic) F;M - Netherlands - - 0 - - WRWF - 1 2 Vera Kalscheuer
00234018 Fam4 Frints 2019, submitted family, 1 affected male, healthy carrier mother M - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234019 Fam5 Frints 2019, submitted family, 2 affected males, 1 mildly affected carrier female, 1 healthy carrier female F;M - Netherlands - - 0 - - WRWF - 1 3 Vera Kalscheuer
00234020 Fam6 Frints 2019, submitted family, 1 affected (1M), 1 carrier mother very mildly affected F - - - - 0 - - WRWF - 1 2 Vera Kalscheuer
00234021 Fam7 Frints 2019, submitted - F;M - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234022 Fam8 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234023 Fam9 Frints 2019, submitted family, 4 affected (4M), 5 heterozygous carrier female, 2 mildly affected F;M - - - - 0 - - WRWF - 1 6 Vera Kalscheuer
00234024 Fam10 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234025 Fam11 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234026 Fam12 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234027 Fam13 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234028 Fam14 Frints 2019, submitted - F - United Kingdom (Great Britain) - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234029 Fam15 Frints 2019, submitted - F - United Kingdom (Great Britain) - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234030 Fam16 Frints 2019, submitted - F - United Kingdom (Great Britain) - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234031 Fam17 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234032 Fam18 Frints 2019, submitted - M - United Kingdom (Great Britain) - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234033 Fam19 Frints 2019, submitted family, 1 affected, healthy carrier mother F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234034 Fam20 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234035 Fam21 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234036 Fam22 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234037 Fam23 Frints 2019, submitted - F - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234038 Fam24 Frints 2019, submitted - M - - - - 0 - - WRWF - 1 1 Vera Kalscheuer
00234040 Family 2-M PubMed: Hirata 2013 5-generation family, 5 affected males, 1 symptomatic heterozygous carrier female M - Germany - - 0 - - WRWF dwarfism (HP:0001516) (2); long (flat) philtrum (HP:0000299) (2); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (2); ptosis (HP:0001488) (3); upturned nares (HP:0000463) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (3); short neck (with limited rotation) (HP:0000470) (2); neonatal respiratory distress (HP:0002643) (3); humeroscapular mobility restriction (HP:0006467) (2); narrow shoulders or thorax (HP:0006664) (3); poor feeding (HP:0002022) (4); kyphosis, lordosis or scoliosis (HP:0002751) (3); congenital hip dislocations or hip flexion contractures (HP:0001374) (4); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (3); proximally placed thumbs (HP:0009623) (2); camptodactyly (HP:0001215) (5); ulnar deviation finger (HP:0009465) (3); proximally placed toes (HP:0001780) (4); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (5); high anterior hairline (HP:0000294) (2); distal muscle weakness (HP:0002460) (2); edema or fat pads (hands and/or feet) (HP:0007514) (3); retardation of motor development (HP:0001263) (5); intellectual disability (HP:0001249) (5); spasticity (HP:0001257) (5); seizures (HP:0001250) (4); MRI delayed myelination (HP:0002188) (2); MRI diffuse cerebral atrophy (HP:0002283) (3) 1 6 Johan den Dunnen
00234041 Family 2-F PubMed: Hirata 2013 heterozygous females F - Germany - - 0 - - WRWF equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1) 1 1 Johan den Dunnen
00234042 Family 3-M PubMed: Hirata 2013 4-generation family, 5 affected males, 7 symptomatic heterozygous carrier female M - Netherlands - - 0 - - WRWF dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (5); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (5); broad alveolar ridges (HP:0000187) (5); high-arched palate (HP:0000218) (5); carp-shaped mouth (HP:0010806) (5); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (5); humeroscapular mobility restriction (HP:0006467) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (2); short limbs (HP:0009826) (2); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (2); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (2); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); high anterior hairline (HP:0000294) (5); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1) 1 12 Johan den Dunnen
00234043 Family 3-F PubMed: Hirata 2013 heterozygous females F - Netherlands - - 0 - - WRWF urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (3); intellectual disability (HP:0001249) (3); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (3); camptodactyly (HP:0001215) (5) 1 7 Johan den Dunnen
00234044 Family 4-M PubMed: Hirata 2013 2-generation family, 2 affected males, 1 symptomatic heterozygous carrier female M - Australia - - 0 - - WRWF drooling (HP:0002307) (2); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (2); seizures (HP:0001250) (1); 1 3 Johan den Dunnen
00234045 Family 4-F PubMed: Hirata 2013 heterozygous female F - Australia - - 0 - - WRWF intellectual disability (HP:0001249) (1) 1 1 Johan den Dunnen
00234047 Family 5-F PubMed: Hirata 2013 heterozygous females F - France - - 0 - - WRWF intellectual disability (HP:0001249) (2) 1 2 Johan den Dunnen
00234048 simplex case 1 PubMed: Hirata 2013 sporadic male patient M - Germany - - 0 - - WRWF dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (1); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (1); broad alveolar ridges (HP:0000187) (1); high-arched palate (HP:0000218) (1); carp-shaped mouth (HP:0010806) (1); drooling (HP:0002307) (1); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (1); humeroscapular mobility restriction (HP:0006467) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (1); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); high anterior hairline (HP:0000294) (1); distal muscle weakness (HP:0002460) (1); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); spasticity (HP:0001257) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1); MRI diffuse cerebral atrophy (HP:0002283) (1) 1 1 Johan den Dunnen
00234049 simplex case 2 PubMed: Hirata 2013 heterozygous female F - United States - - 0 - - WRWF urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1) 1 1 Johan den Dunnen
00234050 simplex case 3 PubMed: Hirata 2013 heterozygous female F - Spain - - 0 - - WRWF urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1) 1 1 Johan den Dunnen
00306143 79 - - F - China - - - - - WRWF - 1 1 Sha Hong
00307187 D15-0320 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA distal arthrogryposis; rocker bottom foot; hip contracture; amyoplasia 1 1 Gianina Ravenscroft
00307214 D17-0141 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA distal arthrogryposis; abnormality extraocular muscles 1 1 Gianina Ravenscroft
00307217 D17-0639 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA distal arthrogryposis; weakness of facial musculature; ptosis; keratosis pilaris; sleep apnea; atrial septal defect; dilatation renal pelvis 1 1 Gianina Ravenscroft
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