Disease #05517 (skeletal dysplasia (dysplasia, skeletal))

Official abbreviation skeletal dysplasia
Name dysplasia, skeletal
OMIM ID -
Inheritance -
Individuals reported having this disease 581
Phenotype entries for this disease 579
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2018-11-16 16:43:21 +01:00 (CET)
Date last edited N/A


Individuals

581 entries on 6 pages. Showing entries 1 - 100.
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00000211 patient;Pat8 PubMed: Dupuis 2013, PubMed: Salian 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - skeletal dysplasia see paper; ..., height 133cm (SD-7.3); normal cognition; coarse face; short neck; short trunk; barrel chest and pectus carinatum; limited extension of elbow joints; short and broad fingers; accentuated lumbar lordosis; genu valgum; waddling gait; platyspondyly, double humps of vertebral bodies, no odontoid hyploplasia, short and broad ilia with basilar hypoplasia, lacy iliac crests, delayed ossification of proximal femoral epiphyses with horizontal growth plate, no laterally displaced proximal femoral epiphyses, epi-metaphyseal irregularities hip, brachydactyly with irregular epi-metaphyses of short tubular bones RAB33B RAB33B 1 1 El Ghouzzi
00204189 Pat1;? PubMed: Girisha 2019, PubMed: Jacob 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - skeletal dysplasia see paper; ..., spondyloepimetaphyseal dysplasia; poor suck, inadequate weight gain, kyphosis; 2y11m-no intellectual disability, normal motor development, normal speech, OFC 43 cm (-4 SD), length 74 cm (-4 SD), weight 7.5 Kg (-3.3 SD), mild facial dysmorphism, small/pointed chin, retrognathia - PISD 1 1 Katta M Girisha
00301741 15DG2238;15DG0764, 15DG0765 PubMed: Maddirevula 2019, PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Neonatal hypotonia, Cutis laxa, Global developmental delay, Kyphosis, Joint laxity C3orf17 C3orf17 1 2 Johan den Dunnen
00321220 - PubMed: Chandler et al., 2018 The variant is paternally inherited, but there are no signs of OI or a history of fracturing in the father.The technique used was the custom NGS Exome panel - - - - - - - - skeletal dysplasia - COL1A1 COL1A1 1 1 Raymond Dalgleish
00331315 13DG1169 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - skeletal dysplasia Hip dysplasia, Metopic synostosis, Global developmental delay, Patent ductus arteriosus, Umbi NO ACTB ACTB 1 1 LOVD
00331316 13DG2212 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Ectopic ossification, Triangular face, Ptosis, Microtia, Overfolded helix, Foot polydactyly Yes ACVR1 ACVR1 1 1 LOVD
00331317 11DG0715, 11DG0716 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Short stature, Abnormality of the eye ADAMTS17 ADAMTS17 1 2 LOVD
00331318 17DG1003 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Short stature, Bilateral ptosis, Deep palmar crease, Low-set ears, Hypertelorism, Hemangi No ADAMTSL2 ADAMTSL2 1 1 LOVD
00331319 12DG2543,12DG2544 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Aortic valve stenosis, Neonatal inspiratory stridor, Seizures, Brachydactyly, Limited elbow No ADAMTSL2 ADAMTSL2 1 2 LOVD
00331320 15DG0465 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Low-set ears, Redundant skin, Narrow chest, Generalized bone demineralization ALPL ALPL 1 1 LOVD
00331321 11DG0848 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Bilateral talipes equinovarus, Limb joint contracture, Limitation of joint mobility, ThickeneYes ANTXR2 ANTXR2 1 1 LOVD
00331322 08DG00156 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Long philtrum, Rectal prolapse, Low-set ears, Depressed nasal bridge, Micrognathia, Thin vNo ANTXR2 ANTXR2 1 1 LOVD
00331323 10DG1878 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Failure to thrive, Intractable diarrhea, Limb joint contracture, Limitation of joint mobility, No ANTXR2 ANTXR2 1 1 LOVD
00331324 17DG1004 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Arthrogryposis multiplex congenita, Hip dysplasia, Global developmental delay, Hypoalbu No ANTXR2 ANTXR2 1 1 LOVD
00331325 12DG2105 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Arthrogryposis multiplex congenita ANTXR2 ANTXR2 1 1 LOVD
00331326 13DG1590, 13DG1591, 13DG1605, 13DG1607, 15DG0280 PubMed: Maddirevula 2018 family, 5 affected (2F, 3M) F;M yes - Arab - - - - skeletal dysplasia Syndactyly, Polydactyly, Short stature, Marked delay in eruption of permanent teeth, Dep No APC APC 1 5 LOVD
00331327 17DG0784 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Short stature ARSB ARSB 1 1 LOVD
00331328 13DG1831 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Dandy-Walker malformation, Hydrocephalus, Kyphosis, Strabismus, Hypermetropia, AbnoYes ARSB ARSB 1 1 LOVD
00331329 12DG0715 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Recurrent fractures, Delayed gross motor development, Blue sclerae, Short stature, KyphoYes B3GALT6 B3GALT6 1 1 LOVD
00331330 12DG1291, 12DG1024 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Delayed gross motor development, Osteopenia, Abnormal facial shape, Micrognathia, BluNo B3GALT6 B3GALT6 1 2 LOVD
00331331 12DG2397 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Multiple joint dislocation, Distal arthrogryposis, Aortic valve stenosis, Prominent foreheadYes B3GALT6 B3GALT6 1 1 LOVD
00331332 12DG1024 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Hypotonia, Abnormal facial shape, Cutis laxa, Wide anterior fontanel, Hypotonia, Talipes eNo B3GALT6 B3GALT6 1 1 LOVD
00331333 12DG2007 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Blue sclerae, Severe short stature, Mitral regurgitation, Joint laxity, Joint dislocation, Kyp Yes B3GALT6 B3GALT6 1 1 LOVD
00331334 10DG1767, 10DG1768, 10DG1769 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - - - - skeletal dysplasia Short stature, Hypermetropia, Strabismus, Rhizomelia, Micrognathia, Generalized joint la No C21orf2 C21orf2 1 3 LOVD
00331335 11DG0973 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Retinal dystrophy, Short stature, Narrow chest, Short ribs, Horizontal ribs, Skeletal dysplaYes C21orf2 C21orf2 1 1 LOVD
00331336 13DG0374, 13DG0375 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Retinal dystrophy, Short stature, Narrow chest C21orf2 C21orf2 1 2 LOVD
00331337 08DG00093, 15DG2215, 15DG2216 PubMed: Maddirevula 2018 family, 3 affected (3F) F yes - Arab - - - - skeletal dysplasia Osteopetrosis, Intellectual disability, Failure to thrive, eczema, Recurrent infections, PersisYes CA2 CA2 1 3 LOVD
00331338 15DG0629 PubMed: Maddirevula 2018 family F no - Arab - - - - skeletal dysplasia Recurrent fractures, Renal tubular acidosis, Intellectual disability, Cerebral calcification, HyNo CA2 CA2 1 1 LOVD
00331339 11DG1498, 10DG1696, 10DG1499 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Osteopetrosis CA2 CA2 1 2 LOVD
00331340 15DG0001 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Macrocephaly at birth, Short stature, Wide anterior fontanel CANT1 CANT1 1 1 LOVD
00331341 15DG2387 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Brachydactyly, Acromelia, Bilateral talipes equinovarus, Micrognathia, Narrow palpebral fi Yes CANT1 CANT1 1 1 LOVD
00331342 16DG0734 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Low-set ears, Abnormality of the pinna, Depressed nasal bridge, ProptNo CANT1 CANT1 1 1 LOVD
00331343 09DG00066, 09DG00019 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Short long bones, IUGR, Polyhydramnios, Narrow chest CANT1 CANT1 1 2 LOVD
00331344 13DG1354 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Severe short stature, Multiple joint dislocation CANT1 CANT1 1 1 LOVD
00331345 14DG0051 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Limb undergrowth, Narrow chest, Neonatal respiratory distress, Round face, MicrognathiaNo CANT1 CANT1 1 1 LOVD
00331346 12DG1875 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Hydrocephalus, Occipital encephalocele, Polycystic kidney dysplasia CC2D2A CC2D2A 1 1 LOVD
00331347 13DG0083 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Breathing dysregulation, Generalized hypotonia, Abnormal facial shape, Nystagmus, Glob No CC2D2A CC2D2A 1 1 LOVD
00331348 15DG1758 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Hydrocephalus, Failure to thrive, Renal insufficiency, Global developmental delay, Molar t No CC2D2A CC2D2A 1 1 LOVD
00331349 14DG0186 , 14DG0187 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Ectrodactyly, Macular dystrophy CDH3 CDH3 1 1 LOVD
00331350 12DG1777, 12DG2033 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Rod-cone dystrophy, Abnormal facial shape, Ectrodactyly CDH3 CDH3 1 1 LOVD
00331351 11DG0416 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Stillbirth, Skeletal dysplasia, Polydactyly, Narrow chest, Limb undergrowth, Syndactyly, CeNo CEP120 CEP120 1 1 LOVD
00331352 13DG1526 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Narrow chest, Abnormal facial shape, Relative macrocephaly, Hypertelorism, Median cleft No CEP120 CEP120 1 1 LOVD
00331353 10DG1030 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Global developmental delay, Oculomotor apraxia, Molar tooth sign on MRI, Retinal dystroNo CEP290 CEP290 1 1 LOVD
00331354 10DG1250 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Generalized hypotonia, Global developmental delay, Visual impairment, Nystagmus, MolaNo CEP290 CEP290 1 1 LOVD
00331355 11DG0364 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Intrauterine growth retardation, Microcephaly, Occipital encephalocele, Anencephaly, Pul Yes CEP290 CEP290 1 1 LOVD
00331356 11DG0512 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Retinal dystrophy, Nephronophthisis, Molar tooth sign on MRI CEP290 CEP290 1 1 LOVD
00331357 11DG1272 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Global developmental delay, Molar tooth sign on MRI CEP290 CEP290 1 1 LOVD
00331358 12DG1317 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Global developmental delay, Molar tooth sign on MRI CEP290 CEP290 1 1 LOVD
00331359 10DG0445, 10DG0446 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Intellectual disability, Hearing impairment, Ectrodactyly, Joint laxity CHST14 CHST14 1 2 LOVD
00331360 15DG1370 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Short stature, Knee dislocation, Congenital bilateral hip dislocation, Downslanted palpebr Yes CHST3 CHST3 1 1 LOVD
00331361 16DG1620, 16DG1621 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Blindness, Recurrent fractures, Osteopetrosis, Dolichocephaly CLCN7 CLCN7 1 2 LOVD
00331362 14DG1059, 14DG1060 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Global Developmental delay, Short stature, Hearing impairment, Abnormal facial shape, HNo COL11A1 COL11A1 1 2 LOVD
00331363 15DG0723 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Flat face COL11A1 COL11A1 1 1 LOVD
00331364 14DG1963 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Tractional retinal detachment COL11A1 COL11A1 1 1 LOVD
00331365 15DG1315 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Micromelia, Abnormal facial shape COL11A2 COL11A2 1 1 LOVD
00331366 17DG0785 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Sensorineural hearing impairment, Limb undergrowth, Relative macrocephaly, Narrow cheNo COL11A2 COL11A2 1 1 LOVD
00331367 10DG0944 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - skeletal dysplasia Osteopenia, Recurent fractures COL1A1 COL1A1 1 1 LOVD
00331368 11DG0155 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Osteopenia COL1A1 COL1A1 1 1 LOVD
00331369 10DG2048 , 10DG2049 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M - - Arab - - - - skeletal dysplasia Osteopenia, Recurent fractures, Tibial bowing, Bowing of the legs COL1A1 COL1A1 1 2 LOVD
00331370 10DG2173 , 10DG2174 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M no - Arab - - - - skeletal dysplasia Osteopenia , Recurrent fractures COL1A1 COL1A1 1 2 LOVD
00331371 17DG0786 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Muscular hypotonia, Microcephaly, Osteopenia, Abnormal facial shape, Failure to thrive, I Yes COL1A1 COL1A1 1 1 LOVD
00331372 11DG0066 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Reduced bone mineral density, Bowing of the long bones COL1A2 COL1A2 1 1 LOVD
00331373 14DG0921 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Recurrent fractures, Triangular face, Blue sclerae, Micrognathia, High, narrow palate COL1A2 COL1A2 1 1 LOVD
00331374 10DG1570 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Recurrent fractures, Multiple prenatal fractures, Blue sclerae, Small face COL1A2 COL1A2 1 1 LOVD
00331375 09DG01656, 09DG01657 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M - - Arab - - - - skeletal dysplasia Recurrent fractures, Osteoporosis COL1A2 COL1A2 1 2 LOVD
00331376 14DG0759 PubMed: Maddirevula 2018 isolated case F - - Arab - - - - skeletal dysplasia Recurrent fractures, Triangular face, Abnormality of the dentition COL1A2 COL1A2 1 1 LOVD
00331377 14DG1457 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Tractional retinal detachment COL2A1 COL2A1 1 1 LOVD
00331378 10DG1851 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Disproportionate short stature, Scoliosis, Metaphyseal dysplasia, Inguinal hernia, Myopia Yes COL2A1 COL2A1 1 1 LOVD
00331379 15DG1146 PubMed: Maddirevula 2018 isolated case M no - - - - - - skeletal dysplasia Non-Arab ( Short stature, Frontal bossing, Plagiocephaly, Short neck, Failure to thrive COL2A1 COL2A1 1 1 LOVD
00331380 15DG1160 PubMed: Maddirevula 2018 isolated case F no - - - - - - skeletal dysplasia Non-Arab ( Osteopenia, Kyphosis, Plagiocephaly, Recurrent fractures COL2A1 COL2A1 1 1 LOVD
00331381 15DG1410 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Short stature COL2A1 COL2A1 1 1 LOVD
00331382 15DG0618 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Inflammatory abnormality of the skin, Finger swelling COL2A1 COL2A1 1 1 LOVD
00331383 15DG1149 PubMed: Maddirevula 2018 isolated case M no - - - - - - skeletal dysplasia Non-Arab ( Short stature COMP COMP 1 1 LOVD
00331384 14DG0467 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Cryptorchidism, Elbow flexion contracture, Global developmental delay, Hirsutism, Under No CREBBP CREBBP 1 1 LOVD
00331385 12DG2123 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Intellectual disability, Severe short stature CREBBP CREBBP 1 1 LOVD
00331386 15DG1125 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Intellectual disability, Severe short stature, Abnormal facial shape CREBBP CREBBP 1 1 LOVD
00331387 11DG1959 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Wide anterior fontanel, Micrognathia, Hand polydactyly, Narrow chest,Yes CRTAP CRTAP 1 1 LOVD
00331388 11DG2122 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Osteopenia , Recurrent fractures CRTAP CRTAP 1 1 LOVD
00331389 11DG2311, 11DG2314, 11DG2315, 13DG0493, 13DG0494 PubMed: Maddirevula 2018 family, 5 affected (5M) M yes - Arab - - - - skeletal dysplasia Osteopetrosis, Frontal bossing, Depressed nasal bridge, Acromesomelia, Pectus carinatumNo CTSK CTSK 1 5 LOVD
00331390 12DG1644, 12DG1645 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - skeletal dysplasia Osteopetrosis, Short stature, Deviated nasal septum, Abnormality of the dentition CTSK CTSK 1 2 LOVD
00331391 08DG00138, 08DG00139 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Cutis laxa, Joint laxity, Global developmental delay, Failure to thrive, Proportionate short No CUL7 CUL7 1 2 LOVD
00331392 10DG1592, 10DG0199, 10DG1592, 10DG1593 PubMed: Maddirevula 2018 family, 4 affected (3F, M) F;M yes - Arab - - - - skeletal dysplasia Joint laxity, Midface retrusion, Depressed nasal bridge, Thick vermilion border, Prominent Yes CUL7 CUL7 1 4 LOVD
00331393 11DG1211, 11DG1210 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Severe short stature, Feeding difficulties, Triangular face, Broad forehead, Wide nose, Mal Yes CUL7 CUL7 1 2 LOVD
00331394 12DG1575 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Short stature, Abnormal heart morphology, Osteopenia, Midface retrusion, Depressed nasno CUL7 CUL7 1 1 LOVD
00331395 17DG0787 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - skeletal dysplasia Short stature, Abnormal facial shape, Failure to thrive CUL7 CUL7 1 1 LOVD
00331396 16DG0357, 16DG0356 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Short stature, Brachydactyly, Hypoplastic toes DIP2C DIP2C 1 2 LOVD
00331397 14DG0661 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Short stature, Scoliosis, Short neck, Skeletal dysplasia, Pectus excavatum, Failure to thriveNo DLL3 DLL3 1 1 LOVD
00331398 12DG2214, 12DG2215 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Neonatal respiratory distress, Kyphoscoliosis, Genu recurvatum, Hemivertebrae, Severe MYes DLL3 DLL3 1 2 LOVD
00331399 17DG0788 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - skeletal dysplasia Scoliosis, Pectus carinatum, Short neck, Short stature, Hemivertebrae, Block vertebrae DLL3 DLL3 1 1 LOVD
00331400 11DG0832, 11DG0833 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - skeletal dysplasia Ectrodactyly, Abnormal nails, Hearing impairment DLX5 DLX5 1 2 LOVD
00331401 15DG0742 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Brachydactyly, Small nail DOCK6 DOCK6 1 1 LOVD
00331402 10DG1365, 10DG1712 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Global developmental delay, Seizures, Blindness, Microcephaly, Aplasia cutis congenita of No DOCK6 DOCK6 1 2 LOVD
00331403 12DG2564 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Aplasia cutis congenita, Depressed nasal bridge, Bulbous nose, Single transverse palmar crYes DOCK6 DOCK6 1 1 LOVD
00331404 12DG2198, 12DG2199 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M no - - - - - - skeletal dysplasia Non-Arab ( Disproportionate short stature, Microcephaly, Pectus carinatum, Spinal canal stenosis, WiYes DYM DYM 1 2 LOVD
00331405 12DG2350 PubMed: Maddirevula 2018 isolated case M no - - - - - - skeletal dysplasia Non-Arab ( Intellectual disability, Short stature, Pectus carinatum, Failure to thrive DYM DYM 2 1 LOVD
00331406 13DG2185, 13DG2186, 13DG2187 PubMed: Maddirevula 2018 family, 3 affected (3F) F yes - Arab - - - - skeletal dysplasia Intellectual disability, Microcephaly, Pectus carinatum, Failure to thrive DYM DYM 1 3 LOVD
00331407 13DG0239 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Global developmental delay, Short stature, Scoliosis DYM DYM 1 1 LOVD
00331408 13DG0451 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Seizures, Short stature, Brachydactyly, Camptodactyly, Hyperlordosis, Platyspondyly, Hyp Yes DYM DYM 1 1 LOVD
00331409 13DG0720, 13DG0721 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Short stature, Microcephaly, Generalized hypotonia, Brisk reflexes, Intellectual disability, Yes DYM DYM 1 2 LOVD
00331410 13DG0723, 13DG0724 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Failure to thrive, Intellectual disability DYM DYM 1 2 LOVD
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