Disease #00845 (ALAZS (Alazami syndrome (ALAZS)), OMIM:615071)

Official abbreviation ALAZS
Name Alazami syndrome (ALAZS)
OMIM ID 615071
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene LARP7
Associated tissues -
Disease features -
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

15 entries on 1 page. Showing entries 1 - 15.
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00080897 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - ALAZS Alazami syndrome (OMIM:615071) LARP7 LARP7 1 1 Daniel Trujillano
00467590 349118 - - M yes Afghanistan - - - - - ALAZS Neurodevelopmental delay, Absent speech, Autism, Hyperglycemia, Elevated hemoglobin A1c LARP7 LARP7 1 1 Andreas Laner
00467592 Fam1Pat1 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 26kg (-4.6 SD), height 133cm (-6.5 SD), OFC 48 (-5.9 SD); broad nose; short philtrum; low set ears; narrow and short palpebral fissure; intellectual disability; early developmental delay; seizure; autism spectrum disorder; myopia/hypermetropia; strabismus; pigmentary retinopathy; hyperthyroidism; renal artery stenosis - LARP7 1 2 Johan den Dunnen
00467593 Fam1Pat2 PubMed: Al-Hinai 2022 sib M - Oman - - - - - ALAZS see paper; ..., broad nose; short philtrum; narrow and short palpebral fissure; intellectual disability; early developmental delay; bilateral proximal radioulnar synostosis. - LARP7 1 1 Johan den Dunnen
00467594 Fam2Pat3 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - ALAZS see paper; ..., weight 15kg (-2.5 SD), height 102cm (-5 SD), OFC 48 (-2.4 SD); broad nose; deep-seated eyes; low set ears; triangular face; narrow and short palpebral fissure; sparse eyebrows; malar hypoplasia; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; blue sclera; mild conductive hearing loss - LARP7 1 1 Johan den Dunnen
00467595 Fam3Pat4 PubMed: Al-Hinai 2022 family, 1 affected F - Oman - - - - - ALAZS see paper; ..., weight 10kg (-8.7 SD), height 88cm (-5 SD), OFC 45(-3.8 SD); broad nose; short philtrum; deep-seated eyes; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; renal artery stenosis - LARP7 1 1 Johan den Dunnen
00467596 Fam4Pat5 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - ALAZS see paper; ..., weight 11kg (-3.8 SD), height 91cm (-4.5 SD), OFC 44 (-5.0 SD); broad nose; intellectual disability; early developmental delay; autism spectrum disorder; clinodactyly; atrial septal defect; micropenis - LARP7 1 1 Johan den Dunnen
00467597 Fam5Pat6 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 28kg (-4.4 SD), height 126cm (-5.7 SD), OFC 50 (-4 SD); broad nose; short philtrum; deep-seated eyes; low set ears; triangular face; sparse eyebrows; wide mouth; intellectual disability; early developmental delay; anxiety; cutaneous syndactyly; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; ectopic kidney - LARP7 2 2 Johan den Dunnen
00467598 Fam5Pat7 PubMed: Al-Hinai 2022 sib M - Oman - - - - - ALAZS see paper; ..., weight 26kg (-2.44 SD), height 129cm (-2.77 SD), OFC 50 (-2.55 SD); broad nose; short philtrum; deep-seated eyes; triangular face; malar hypoplasia; wide mouth; full lips; intellectual disability; early developmental delay; anxiety; syndactyly; thickened skin over the hands and feet; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly - LARP7 2 1 Johan den Dunnen
00467599 Fam6Pat8 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 43kg (-0.4 SD), height 128(-4.1 SD), OFC 52 (-1.25 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; seizure; cutis marmorata; collecting system anomaly; truncal obesity, acne vulgaris - LARP7 1 2 Johan den Dunnen
00467600 Fam6Pat9 PubMed: Al-Hinai 2022 sib M - Oman - - - - - ALAZS see paper; ..., weight 18kg (-3.6 SD), height 113cm (-4.4 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; spina bifida occulta; collecting system anomaly; undescended testis - LARP7 1 1 Johan den Dunnen
00467601 Fam7Pat10 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - ALAZS see paper; ..., weight 6.9kg (-4.2 SD), height 73cm (-2.8 SD), OFC 43 (-3.6 SD); deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; clinodactyly; undescended testis; atrial septal defect - LARP7 1 1 Johan den Dunnen
00467602 Fam8Pat11 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 17kg (-2.6 SD), height 106cm (-3.8 SD), OFC 48 (-2.9 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; myopia/hypermetropia; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly; atrial septal defect - LARP7 1 2 Johan den Dunnen
00467603 Fam8Pat12 PubMed: Al-Hinai 2022 sib F - Oman - - - - - ALAZS see paper; ..., weight 9.3kg (-3.9 SD), height 87cm (-3.25 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; talipes equinovarus; myopia/hypermetropia; blue sclera; pigmentary retinopathy; atrial septal defect - LARP7 1 1 Johan den Dunnen
00467695 patient PubMed: Ivanovski 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - ALAZS see paper; ... - LARP7 2 1 Johan den Dunnen
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