| System/Phenotype | Frequency (n/N) | Percent | Notes/Typical findings | Suggested HPO term(s) |
|---|---:|---:|---|---|
| Neurodevelopment: developmental delay | 30/31 | 97% | Near-universal developmental delay/delayed milestones in reported cohort; onset in infancy/early childhood (pqac-00000008, pqac-00000009) | HP:0001263 Global developmental delay |
| Neurodevelopment: speech delay | 29/31 | 93% | Marked speech/language delay was one of the most frequent features (pqac-00000008, pqac-00000009) | HP:0000750 Delayed speech and language development |
| Neurodevelopment: motor delay | 26/31 | 83% | Delayed motor milestones; mean independent ambulation ~30 months, with some walking after age 5 years (pqac-00000008, pqac-00000009) | HP:0001270 Motor delay; HP:0001252 Muscular hypotonia |
| Neurodevelopment: intellectual disability | 19/22 | 86% | Usually mild-to-moderate ID among assessed individuals; a minority had normal IQ (pqac-00000009) | HP:0001249 Intellectual disability |
| Neuroimaging abnormalities | 22/23 | 96% | Brain MRI findings included ventriculomegaly, hydrocephalus, thin corpus callosum, white-matter changes, Arnold–Chiari I, and moyamoya-type changes (pqac-00000009, pqac-00000010) | HP:0001276 Ventriculomegaly; HP:0001273 Abnormality of the corpus callosum; HP:0001083 Hydrocephalus; HP:0001272 Cerebellar tonsillar ectopia |
| Cardiovascular: congenital heart defects | 19/29 | 65% | Septal, conotruncal, valvular, and other structural cardiac anomalies were reported; echocardiography recommended (pqac-00000008, pqac-00000009, pqac-00000010) | HP:0001627 Abnormality of the cardiovascular system; HP:0001631 Atrial septal defect; HP:0001629 Ventricular septal defect |
| Growth/head size: macrocephaly | 11/28 | 39% | Common but not universal; macrocephaly is part of the recognizable phenotype (pqac-00000008, pqac-00000009) | HP:0000256 Macrocephaly |
| Hearing loss | 11/20 | 55% | Conductive and/or sensorineural hearing loss occurred frequently; audiology assessment advised (pqac-00000008, pqac-00000009, pqac-00000010) | HP:0000365 Hearing impairment; HP:0000407 Sensorineural hearing impairment; HP:0000405 Conductive hearing impairment |
| Ophthalmic abnormalities | 14/19 | 73% | Frequent eye/vision abnormalities, though specific ophthalmic findings varied across individuals (pqac-00000009, pqac-00000010) | HP:0000478 Abnormality of the eye; HP:0000501 Visual impairment |
| Skeletal/limb anomalies | 10/32 | 31% | Included vertebral fusion, carpal/tarsal coalition, syndactyly, and polydactyly (pqac-00000008, pqac-00000009, pqac-00000010) | HP:0000924 Abnormality of the skeletal system; HP:0002949 Vertebral fusion; HP:0006101 Finger syndactyly; HP:0010442 Polydactyly |
| Male genital anomalies: cryptorchidism/microphallus | 13/20 (males) | 65% of males | High prevalence of male genital anomalies; supports endocrine/reproductive evaluation (pqac-00000009, pqac-00000010) | HP:0000028 Cryptorchidism; HP:0000054 Micropenis |
| Endocrine/reproductive: hypogonadism | 13/32 | 40% | Hypogonadotropic hypogonadism reported; low gonadotropins documented in some males (pqac-00000008, pqac-00000009, pqac-00000010) | HP:0000135 Hypogonadism; HP:0000044 Hypogonadotropic hypogonadism |
| Endocrine/growth: growth hormone deficiency | 3 cases | NR | Three individuals had growth hormone deficiency; one was treated (pqac-00000009, pqac-00000030) | HP:0000824 Growth hormone deficiency; HP:0001510 Growth delay |
| Additional commonly reported but not frequency-specified feature: facial gestalt | NR | NR | High broad forehead, squared face, periorbital fullness, hypertelorism/widely spaced eyes, short nose, and small/dysmorphic ears (pqac-00000009, pqac-00000010) | HP:0002007 Frontal bossing; HP:0000316 Hypertelorism; HP:0000586 Fullness of the eyelids; HP:0003196 Short nose; HP:0000377 Abnormality of the pinna |
| Additional vascular complication | 2 cases | NR | Moyamoya angiopathy/stroke reported in a small subset; supports consideration of neurovascular imaging when clinically indicated (pqac-00000008, pqac-00000010) | HP:0002527 Stroke; HP:0010885 Moyamoya disease |


*Table: This table summarizes the key cohort-level clinical features reported for Sifrim–Hitz–Weiss syndrome (CHD4-related syndrome) in Weiss et al. 2020, including frequencies, typical manifestations, and suggested HPO terms for knowledge-base annotation.*