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

Official abbreviation GLASS
Name syndrome, Glass (GLASS, chromosome 2q32-q33 deletion syndrome)
OMIM ID 612313
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 56
Phenotype entries for this disease 55
Associated with 1 gene SATB2
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

56 entries on 1 page. Showing entries 1 - 56.
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00080915 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - GLASS Glass syndrome (OMIM:612313) SATB2 SATB2 1 1 Daniel Trujillano
00091679 - - Family, 1 affected F no Germany caucasian - 0 - - 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 caucasian, hispanic - 0 - - 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 caucasian - 0 - - 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 caucasian - 0 - - GLASS - SATB2 SATB2 1 1 YA Zarate
00091687 - - Family, 1 affected M no United Kingdom (Great Britain) caucasian - 0 - - 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 caucasian - 0 - - 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 caucasian - 0 - - 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 - - - - - - - 0 - - GLASS - - SATB2 1 1 YA Zarate
00204584 SATB2-89 - - - - - - - 0 - - GLASS Global developmental delay Growth delay Muscular hypotonia - SATB2 1 1 YA Zarate
00204585 SATB2-83 - - - - - - - 0 - - GLASS Cleft palate Feeding difficulties Strabismus Dental crowding Sleep disturbance Happy demeanor Aggressive behavior - SATB2 1 1 YA Zarate
00204586 SATB2-91 - - - - - - - 0 - - GLASS Global developmental delay Cleft palate Growth delay Feeding difficulties - SATB2 1 1 YA Zarate
00205391 SATB2-127 - - - - - - - 0 - - GLASS Global developmental delay Growth delay Feeding difficulties Sleep disturbance Happy demeanor Broad thumb Broad hallux - SATB2 1 1 YA Zarate
00205392 SATB2-97 - - - - - - - 0 - - GLASS Global developmental delay Strabismus Sleep disturbance Happy demeanor Muscular hypotonia - SATB2 1 1 YA Zarate
00205393 SATB2-106 - - - - - - - 0 - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor ADHD - SATB2 1 1 YA Zarate
00205394 SATB2-108 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Oligodontia Happy demeanor Aggressive behavior - SATB2 1 1 YA Zarate
00205395 SATB2-124 - - - - - - - 0 - - GLASS Global developmental delay Cleft palate Strabismus Dental Crowding Happy demeanor Smooth Philtrum - SATB2 1 1 YA Zarate
00205396 SATB2-68 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Growth delay Seizures Oligodontia Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205397 SATB2-133 - - - - - - - 0 - - GLASS Delayed speech Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205398 SATB2-131 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Seizures Dental Crowding Osteopenia Happy demeanor ADHD - SATB2 1 1 YA Zarate
00205422 SATB2-84 - - - - - - - 0 - - 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 - - - - - - - 0 - - GLASS Global developmental delay Seizures Growth delay Strabismus Dental Crowding Happy demeanor Broad thumb Aggressive behavior - SATB2 1 1 YA Zarate
00205424 SATB2-100 - - - - - - - 0 - - GLASS Global developmental delay Seizures Strabismus Dental Crowding Oligodontia Osteopenia Happy demeanor - SATB2 1 1 YA Zarate
00205447 SATB2-132 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Strabismus Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205448 SATB2-104 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Oligodontia Happy demeanor Sleep disturbance Aggressive behavior - SATB2 1 1 YA Zarate
00205449 SATB2-110 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Growth Delay Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205450 SATB2-112 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Seizures Growth delay Dental Crowding Osteopenia Happy demeanor Muscular hypotonia - SATB2 1 1 YA Zarate
00205486 SATB2-94 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Growth delay Seizures Dental Crowding Happy demeanor ADHD - SATB2 1 1 YA Zarate
00205487 SATB2-129 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Strabismus Oligodontia Happy demeanor Autism Muscular hypotonia - SATB2 1 1 YA Zarate
00205488 SATB2-125 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Growth delay Happy demeanor Thin vermilion border ADHD Muscular hypotonia - SATB2 1 1 YA Zarate
00205489 SATB2-96 - - - - - - - 0 - - GLASS Global developmental delay Osteopenia Happy demeanor - SATB2 1 1 YA Zarate
00205490 SATB2-105 - - - - - - - 0 - - GLASS Global developmental delay Seizures Strabismus Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia - SATB2 1 1 YA Zarate
00205491 SATB2-111 - - - - - - - 0 - - GLASS Global developmental delay Feeding difficulties Growth delay Strabismus Choanal atresia Osteopenia smooth philtrum - SATB2 1 1 YA Zarate
00205516 SATB2-101 - - - - - - - 0 - - 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 - - - - - - - 0 - - GLASS Global developmental delay Seizures Growth delay Dental Crowding Happy demeanor Sleep disturbance ADHD smooth philtrum - SATB2 1 1 YA Zarate
00205518 SATB2-116 - - - - - - - 0 - - GLASS Global developmental delay Seizures ADHD Aggressive behavior - SATB2 1 1 YA Zarate
00205519 SATB2-130 - - - - - - - 0 - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor - SATB2 1 1 YA Zarate
00205545 SATB2-88 - - - - - - - 0 - - GLASS Delayed speech Feeding difficulties Cleft palate Strabismus Oligodontia taurodontism Smooth philtrum Thin vermilion border - SATB2 1 1 YA Zarate
00205847 SATB2-90 - - M - - - - 0 - - 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 - - - - 0 - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor Broad thumb - SATB2 1 1 YA Zarate
00205849 SATB2-119 - - F - - - - 0 - - 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 - - - - 0 - - GLASS Global developmental delay Seizures Feeding difficulties Strabismus Happy demeanor Sleep disturbance Muscular hypotonia Autism - SATB2 2 1 YA Zarate
00205851 SATB2-103 - - F - - - - 0 - - 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 - - - - 0 - - GLASS Global developmental delay Cleft palate Feeding difficulties Strabismus Osteopenia Happy demeanor Sleep disturbance Autism - SATB2 1 1 YA Zarate
00205853 SATB2-81 - - M - - - - 0 - - 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 - - - - 0 - - GLASS Global developmental delay Strabismus Happy demeanor Sleep disturbance - SATB2 1 1 YA Zarate
00229778 SATB2-139 - - M no - - 03y 0 - - GLASS developmental delay cleft palate dental issues feeding difficulties SATB2 SATB2 1 1 YA Zarate
00229780 SATB2-117 - - M - - - 12y 0 - - GLASS developmental delay Intellectual disability Dental issues Growth retardation Feeding difficulties - SATB2 1 3 YA Zarate
00229781 SATB2-136 - - M no - - - 0 - - GLASS Developmental delay Dental issues Feeding difficulties - SATB2 1 3 YA Zarate
00229782 SATB2-137 - - M no - - - 0 - - GLASS Developmental delay Intellectual disability Dental issues Growth retardation Feeding difficulties - SATB2 1 1 YA Zarate
00229783 SATB2-138 - - F no - - - 0 - - GLASS Developmental delay Cleft palate Dental issues Growth retardation Feeding difficulties - SATB2 1 3 YA Zarate
00229784 SATB2-134 - - F no - - - 0 - - GLASS Developmental delay Dental issues Seizures Feeding difficulties - SATB2 1 1 YA Zarate
00229785 SATB2-142 - - F no - - - 0 - - GLASS Developmental delay Intellectual disability Dental issues Growth retardation Feeding difficulties - SATB2 1 1 YA Zarate
00229786 SATB2-135 - - M - - - - 0 - - GLASS Developmental delay Dental issues Feeding difficulties - SATB2 1 3 YA Zarate
00229797 Patient 1 PubMed: Yamada 2019 - F - Japan - - 0 - - GLASS Developmental delay Cleft palate Macrodontia Diastema Absent speech - SATB2 1 3 YA Zarate
00229798 Patient 2 PubMed: Yamada 2019 - F - Japan - - 0 - - GLASS Developmental delay cleft palate Diastema Macrodontia Absent speech - SATB2 1 2 YA Zarate
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