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

Official abbreviation skeletal dysplasia
Name dysplasia, skeletal
OMIM ID -
Inheritance -
Individuals reported having this disease 402
Phenotype entries for this disease 401
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

402 entries on 5 pages. Showing entries 1 - 100.
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00204189 02958 - two affected children - - India - - - - - skeletal dysplasia - - PISD 1 2 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
00331411 13DG0636, 13DG0636 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Intellectual disability, Short stature, Short neck, Pectus excavatum, Intercostal retractions Yes DYM DYM 1 2 LOVD
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