All individuals with variants in gene PHF5A

9 entries on 1 page. Showing entries 1 - 9.
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00424800 Pat1 PubMed: Harms 2023, Journal: Harms 2023 - F no - - - - - - DD Caesarian section (HP:0011410); Premature birth (HP:0001622); Sacral dimple (HP:0000960); Macrocephaly (HP:0000256); Motor delay (HP:0001270); Speech delay (HP:0000750); High forehead (HP:0000348); Hypertelorism (HP:0000316); Periorbital fullness (HP:0000629) 1 1 Frederike Leonie Harms
00424801 Pat2 PubMed: Harms 2023, Journal: Harms 2023 - M no - - - - - - DD Intrauterine growth retardation (HP:0001511); Premature birth (HP:0001622); Respiratory failure requiring assisted ventilation (HP:0004887); Hypospadias (HP:0000047); Inguinal hernia (HP:0000023); Sacral dimple (HP:0000960); Small for gestational age (HP:0001518); Microcephaly (HP:0000252); Short stature (HP:0004322); Motor delay (HP:0001270); Speech delay (HP:0000750); Preauricular skin tag (HP:0000384); Deeply set eyes (HP:0000490) 1 1 Frederike Leonie Harms
00424827 Pat3 PubMed: Harms 2023, Journal: Harms 2023 - M no - - - - - - DD Intrauterine growth retardation (HP:0001511); Caesarian section (HP:0011410); Premature birth (HP:0001622); Respiratory failure requiring assisted ventilation (HP:0004887); Hypospadias (HP:0000047); Inguinal hernia (HP:0000023); Motor delay (HP:0001270); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Intellectual disability, mild (HP:0001256); Hypotonia (HP:0001252); Seizure (HP:0001250); Autistic behavior (HP:0000729); Sleep disturbance (HP:0002360); High forehead (HP:0000348); Preauricular skin tag (HP:0000384); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490) 1 1 Frederike Leonie Harms
00424828 Pat4 PubMed: Harms 2023, Journal: Harms 2023 - M no - - - - - - DD Caesarian section (HP:0011410); Abnormal aortic arch morphology (HP:0012303); Ventricular septal defect (HP:0001629); Motor delay (HP:0001270); Speech delay (HP:0000750); Postaxial polydactyly (HP:0100259); High forehead (HP:0000348); Preauricular skin tag (HP:0000384); Periorbital fullness (HP:0000629); Deeply set eyes (HP:0000490); Low-set ears (HP:0000369) 1 1 Frederike Leonie Harms
00424829 Pat6 PubMed: Harms 2023, Journal: Harms 2023 - F no - - - - - - DD Intrauterine growth retardation (HP:0001511); Caesarian section (HP:0011410); Premature birth (HP:0001622); Respiratory failure requiring assisted ventilation (HP:0004887); Motor delay (HP:0001270); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Intellectual disability, mild (HP:0001256); Preauricular skin tag (HP:0000384); Hypertelorism (HP:0000316); Broad toe (HP:0001837); Long fingers (HP:0100807); Low-set ears (HP:0000369); Retrognathia (HP:0000278) 1 1 Frederike Leonie Harms
00424913 Pat9 PubMed: Harms 2023, Journal: Harms 2023 - F - - - - - - - DD Intrauterine growth retardation (HP:0001511); Atrial septal defect (HP:0001631) Small for gestational age (HP:0001518); Microcephaly (HP:0000252); Short stature (HP:0004322); Motor delay (HP:0001270); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Hypotonia (HP:0001252); Low-set ears (HP:0000369) 1 1 Frederike Leonie Harms
00427965 Pat8 PubMed: Harms 2023, Journal: Harms 2023 - M - - - - - - - DD Hypospadias (HP:0000047); Atrial septal defect (HP:0001631); Inguinal hernia (HP:0000023); Sacral dimple (HP:0000960); Short stature (HP:0004322); Motor delay (HP:0001270); Speech delay (HP:0000750); Hypotonia (HP:0001252); Broad toes (HP:0001837); Short distal phalanx of hallux (HP:0010103); Small nails (HP:0001792) and nail dysplasia (HP:0002164); Downslanted palpebral fissures (HP:0000494) 1 1 Frederike Leonie Harms
00435027 Pat5 PubMed: Harms 2023, Journal: Harms 2023 - - no ? (unknown) - - - - - DD Intrauterine growth retardation (HP:0001511); Small for gestational age (HP:0001518); Short stature (HP:0004322); Motor delay (HP:0001270); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Intellectual disability, mild (HP:0001256); Hypotonia (HP:0001252); Talipes equinovarus (HP:0001762); Long fingers (HP:0100807); Broad toes (HP:0001837); nail dysplasia (HP:0002164);Preauricular skin tag (HP:0000384); Periorbital fullness (HP:0000629); Hypertelorism (HP:0000316);Hypertelorism (HP:0000316); Low-set ears (HP:0000369) 1 1 Frederike Leonie Harms
00436161 Pat7 PubMed: Harms 2023, Journal: Harms 2023 - F no - - - - - - DD intrauterine growth retardation (HP:0001511); Caesarian section (HP:0011410); no premature birth (-HP:0001622); no respiratory failure requiring assisted ventilation (-HP:0004887); no abnormal aortic arch morphology (-HP:0012303); no atrial septal defect (-HP:0001631); no ventricular septal defect (-HP:0001629); no inguinal hernia (-HP:0000023); no sacral dimple (-HP:0000960); small for gestational age (HP:0001518); no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); short stature (HP:0004322); motor delay (HP:0001270); speech delay (HP:0000750); mild intellectual disability (HP:0001256); no hypotonia (-HP:0001252); no seizure (-HP:0001250); no autistic behavior (-HP:0000729); no sleep disturbance (-HP:0002360); no talipes equinovarus (-HP:0001762); no postaxial polydactyly (-HP:0100259); long fingers (HP:0100807); no broad toes (-HP:0001837); no short distal phalanx of hallux (-HP:0010103); no small nails (-HP:0001792); no nail dysplasia (-HP:0002164); high forehead (HP:0000348); no preauricular skin tag (-HP:0000384); periorbital fullness (HP:0000629); deeply set eyes (HP:0000490); no hypertelorism (-HP:0000316); no downslanted palpebral fissures (-HP:0000494); no low-set ears (-HP:0000369); no retrognathia (-HP:0000278) 1 1 Johan den Dunnen
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