All individuals with variants in gene AP4S1

11 entries on 1 page. Showing entries 1 - 11.
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VIP     
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Owner     
00011652 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents M yes Syria - - - - - ID severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -1SD, height 145cm, no epilepsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently 1 1 Johan den Dunnen
00011653 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents F yes Syria - - - - - ID severe ID; no normal speech, stereotypic laughter, shy character, progressing to hypertonia, no spasticity, drooling, not ambulant, foot deformity, head circumference -4SD, height 130cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently 1 1 Johan den Dunnen
00011654 - PubMed: Abou Jamra 2011 6-generation family, 7 affecteds, 2 with markedly different phenotype (not carrier), unaffected carrier parents M yes Syria - - - - - ID severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -2SD, height 140cm, no epilipsy, sphincter control, amblyopia, normal hearing, no overweight; 2.5y walk independently 1 1 Johan den Dunnen
00034564 - PubMed: Hardies 2015, Journal: Hardies 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no (Belgium) European, white - - - - ID see paper; infantile onset seizures, severe developmental delay, spastic paraplegia, facial hypotonia and dysmorphic features (broad nasal bridge, hypertelorism with telecantus, arched eyebrows, bulbous nose, short philtrum, wide mouth, full lips, high palate 2 2 Johan den Dunnen
00176997 70757 - - F no - - - - - - EIEE HP:0000160 HP:0001252 HP:0002078 HP:0002313 HP:0000565 1 1 Anaïs Begemann
00269891 - - - ? - - - - - - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Cryptorchidism (HP:0000028); Joint laxity (HP:0001388); Premature graying of hair (HP:0002216) 1 1 IMGAG
00318007 PKMR216 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Severe ID, Speech delay, hypotonia, epilepsy, growth retardation 1 1 Johan den Dunnen
00380817 ? PubMed: Nair 2018 - ? - Lebanon - - - - - SPG52 ID; spastic paraplegia (Neurological) 1 1 LOVD
00387778 M8600070 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Baloch - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00387905 M9100017 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents once removed - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 3 Johan den Dunnen
00403867 TF045 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
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