Disease #03120 (GLASS (Glass syndrome (GLASS, chromosome 2q32-q33 deletion syndrome)), OMIM:612313)

Official abbreviation GLASS
Name Glass syndrome (GLASS, chromosome 2q32-q33 deletion syndrome)
OMIM ID 612313
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 57
Phenotype entries for this disease 56
Associated with 1 gene SATB2
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

57 entries on 1 page. Showing entries 1 - 57.
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00080915 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - GLASS Glass syndrome (OMIM:612313) SATB2 SATB2 1 1 Daniel Trujillano
00091679 - - Family, 1 affected F no Germany white - - - - GLASS global developmental delay (HP:0001263), absent speech (HP :0001344), dysmorphic facial features (HP:0001999), abnormality of dental morphology (HP:0006482) - SATB2 1 1 YA Zarate
00091684 - - family, 1 affected M no United States white, hispanic - - - - GLASS global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), abnormality of dental morphology (HP:0006482) poor speech development (HP:0000750) SATB2 SATB2 1 1 YA Zarate
00091685 - - family, 1 affected M no United States white - - - - GLASS global developmental delay, HP:0001263; cleft palate, HP:0000175; absent speech, HP:0001344; dysmorphic facial features; micrognathia, HP:0000347; abnormality of dental morphology, HP:0006482 SATB2 SATB2 1 1 YA Zarate
00091686 - - Family, 1 affected M no Spain white - - - - GLASS - SATB2 SATB2 1 1 YA Zarate
00091687 - - Family, 1 affected M no United Kingdom (Great Britain) white - - - - GLASS global developmental delay (HP:0001263), cleft palate (HP:0000175), absent speech (HP:0001344), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482) SATB2 SATB2 1 1 YA Zarate
00091688 - - Family, 1 affected M no United States white - - - - GLASS global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482), poor speech development (HP:0000750) SATB2 SATB2 1 1 YA Zarate
00091689 - - 1 affected M no Australia white - - - - GLASS global developmental delay (HP:0001263), absent speech (HP :0001344), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482) poor speech development (HP:0000750) SATB2 SATB2 1 1 YA Zarate
00204582 SATB2-114 - - - - - - - - - - GLASS - - SATB2 1 1 YA Zarate
00204584 SATB2-89 - - - - - - - - - - GLASS Global developmental delay Growth delay Muscular hypotonia - SATB2 1 1 YA Zarate
00204585 SATB2-83 - - - - - - - - - - GLASS Cleft palate Feeding difficulties Strabismus Dental crowding Sleep disturbance Happy demeanor Aggressive behavior - SATB2 1 1 YA Zarate
00204586 SATB2-91 - - - - - - - - - - GLASS Global developmental delay Cleft palate Growth delay Feeding difficulties - SATB2 1 1 YA Zarate
00205391 SATB2-127 - - - - - - - - - - GLASS Global developmental delay Growth delay Feeding difficulties Sleep disturbance Happy demeanor Broad thumb Broad hallux - SATB2 1 1 YA Zarate
00205392 SATB2-97 - - - - - - - - - - GLASS Global developmental delay Strabismus Sleep disturbance Happy demeanor Muscular hypotonia - SATB2 1 1 YA Zarate
00205393 SATB2-106 - - - - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor ADHD - SATB2 1 1 YA Zarate
00205394 SATB2-108 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Oligodontia Happy demeanor Aggressive behavior - SATB2 1 1 YA Zarate
00205395 SATB2-124 - - - - - - - - - - GLASS Global developmental delay Cleft palate Strabismus Dental Crowding Happy demeanor Smooth Philtrum - SATB2 1 1 YA Zarate
00205396 SATB2-68 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Seizures Oligodontia Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205397 SATB2-133 - - - - - - - - - - GLASS Delayed speech Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205398 SATB2-131 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Seizures Dental Crowding Osteopenia Happy demeanor ADHD - SATB2 1 1 YA Zarate
00205422 SATB2-84 - - - - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Growth delay Strabismus Dental Crowding Happy demeanor Sleep disturbance Thin vermillion border - SATB2 1 1 YA Zarate
00205423 SATB2-122 - - - - - - - - - - GLASS Global developmental delay Seizures Growth delay Strabismus Dental Crowding Happy demeanor Broad thumb Aggressive behavior - SATB2 1 1 YA Zarate
00205424 SATB2-100 - - - - - - - - - - GLASS Global developmental delay Seizures Strabismus Dental Crowding Oligodontia Osteopenia Happy demeanor - SATB2 1 1 YA Zarate
00205447 SATB2-132 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205448 SATB2-104 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Oligodontia Happy demeanor Sleep disturbance Aggressive behavior - SATB2 1 1 YA Zarate
00205449 SATB2-110 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth Delay Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205450 SATB2-112 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Seizures Growth delay Dental Crowding Osteopenia Happy demeanor Muscular hypotonia - SATB2 1 1 YA Zarate
00205486 SATB2-94 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Seizures Dental Crowding Happy demeanor ADHD - SATB2 1 1 YA Zarate
00205487 SATB2-129 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Oligodontia Happy demeanor Autism Muscular hypotonia - SATB2 1 1 YA Zarate
00205488 SATB2-125 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Happy demeanor Thin vermilion border ADHD Muscular hypotonia - SATB2 1 1 YA Zarate
00205489 SATB2-96 - - - - - - - - - - GLASS Global developmental delay Osteopenia Happy demeanor - SATB2 1 1 YA Zarate
00205490 SATB2-105 - - - - - - - - - - GLASS Global developmental delay Seizures Strabismus Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205491 SATB2-111 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Strabismus Choanal atresia Osteopenia smooth philtrum - SATB2 1 1 YA Zarate
00205516 SATB2-101 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Happy demeanor Sleep disturbance Muscular hypotonia Thin vermilion border smooth philtrum - SATB2 1 1 YA Zarate
00205517 SATB2-109 - - - - - - - - - - GLASS Global developmental delay Seizures Growth delay Dental Crowding Happy demeanor Sleep disturbance ADHD smooth philtrum - SATB2 1 1 YA Zarate
00205518 SATB2-116 - - - - - - - - - - GLASS Global developmental delay Seizures ADHD Aggressive behavior - SATB2 1 1 YA Zarate
00205519 SATB2-130 - - - - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor - SATB2 1 1 YA Zarate
00205545 SATB2-88 - - - - - - - - - - GLASS Delayed speech Feeding difficulties Cleft palate Strabismus Oligodontia taurodontism Smooth philtrum Thin vermilion border - SATB2 1 1 YA Zarate
00205847 SATB2-90 - - M - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Growth delay Happy demeanor Sleep disturbance Aggressive behavior - SATB2 1 1 YA Zarate
00205848 SATB2-123 - - M - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor Broad thumb - SATB2 1 1 YA Zarate
00205849 SATB2-119 - - F - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Dental Crowding Oligodontia Happy demeanor Muscular hypotonia Thin vermilion border ADHD - SATB2 1 1 YA Zarate
00205850 SATB2-98 - - F - - - - - - - GLASS Global developmental delay Seizures Feeding difficulties Strabismus Happy demeanor Sleep disturbance Muscular hypotonia Autism - SATB2 2 1 YA Zarate
00205851 SATB2-103 - - F - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Taurodontism Sleep disturbance Muscular hypotonia Flat philtrum - SATB2 1 1 YA Zarate
00205852 SATB2-120 - - F - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Strabismus Osteopenia Happy demeanor Sleep disturbance Autism - SATB2 1 1 YA Zarate
00205853 SATB2-81 - - M - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Strabismus Dental Crowding Happy demeanor Muscular hypotonia Aggressive behavior - SATB2 1 1 YA Zarate
00205854 SATB2-95 - - M - - - - - - - GLASS Global developmental delay Strabismus Happy demeanor Sleep disturbance - SATB2 1 1 YA Zarate
00229778 SATB2-139 - - M no - - 03y - - - GLASS developmental delay cleft palate dental issues feeding difficulties SATB2 SATB2 1 1 YA Zarate
00229780 SATB2-117 - - M - - - 12y - - - GLASS developmental delay Intellectual disability Dental issues Growth retardation Feeding difficulties - SATB2 1 3 YA Zarate
00229781 SATB2-136 - - M no - - - - - - GLASS Developmental delay Dental issues Feeding difficulties - SATB2 1 3 YA Zarate
00229782 SATB2-137 - - M no - - - - - - GLASS Developmental delay Intellectual disability Dental issues Growth retardation Feeding difficulties - SATB2 1 1 YA Zarate
00229783 SATB2-138 - - F no - - - - - - GLASS Developmental delay Cleft palate Dental issues Growth retardation Feeding difficulties - SATB2 1 3 YA Zarate
00229784 SATB2-134 - - F no - - - - - - GLASS Developmental delay Dental issues Seizures Feeding difficulties - SATB2 1 1 YA Zarate
00229785 SATB2-142 - - F no - - - - - - GLASS Developmental delay Intellectual disability Dental issues Growth retardation Feeding difficulties - SATB2 1 1 YA Zarate
00229786 SATB2-135 - - M - - - - - - - GLASS Developmental delay Dental issues Feeding difficulties - SATB2 1 3 YA Zarate
00229797 Patient 1 PubMed: Yamada 2019 - F - Japan - - - - - GLASS Developmental delay Cleft palate Macrodontia Diastema Absent speech - SATB2 1 3 YA Zarate
00229798 Patient 2 PubMed: Yamada 2019 - F - Japan - - - - - GLASS Developmental delay cleft palate Diastema Macrodontia Absent speech - SATB2 1 2 YA Zarate
00391497 187105 - - M no Hungary - - - - - GLASS Tall stature, Cleft palate, Misalignment of teeth, Pectus excavatum, Muscular hypotonia, Disproportionate tall stature, Pes cavus, Sandal gap, Expressive language delay, Lumbar hyperlordosis, Crowded maxillary incisors, Severe expressive language delay, Anterior pituitary dysgenesis, Moderate global developmental delay SATB2 SATB2 1 1 Andreas Laner
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